1-144886107-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886107
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3538T>A
  hgvsp: ENSP00000358366.4:p.Ser1180Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3127T>A
  hgvsp: ENSP00000358360.3:p.Ser1043Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3127T>A
  hgvsp: ENSP00000358363.4:p.Ser1043Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21783T>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18518T>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3325T>A
  hgvsp: ENSP00000327209.9:p.Ser1109Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3538T>A
  hgvsp: ENSP00000435654.1:p.Ser1180Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.561T>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1043Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-144886113-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886113
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886113
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3121T>G
  hgvsp: ENSP00000358363.4:p.Ser1041Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3532T>G
  hgvsp: ENSP00000435654.1:p.Ser1178Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3319T>G
  hgvsp: ENSP00000327209.9:p.Ser1107Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3121T>G
  hgvsp: ENSP00000358360.3:p.Ser1041Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.555T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3532T>G
  hgvsp: ENSP00000358366.4:p.Ser1178Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18512T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21789T>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1041Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-144886114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886114
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886114
    reference: chr 1
allele count: 7
allele frequency: 5.765967611736215e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3120C>T
  hgvsp: ENST00000369356.4:c.3120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3531C>T
  hgvsp: ENST00000369359.4:c.3531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21790C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3120C>T
  hgvsp: ENST00000369354.3:c.3120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3531C>T
  hgvsp: ENST00000530740.1:c.3531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3318C>T
  hgvsp: ENST00000313382.9:c.3318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18511C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.554C>T
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19487
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1040Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-144886121-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886121
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886121
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3524G>C
  hgvsp: ENSP00000435654.1:p.Gly1175Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3311G>C
  hgvsp: ENSP00000327209.9:p.Gly1104Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21797G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3524G>C
  hgvsp: ENSP00000358366.4:p.Gly1175Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3113G>C
  hgvsp: ENSP00000358363.4:p.Gly1038Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3113G>C
  hgvsp: ENSP00000358360.3:p.Gly1038Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.547G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18504G>C
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19488
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1038Ala
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-144886122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886122
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886122
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.546G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3523G>A
  hgvsp: ENSP00000435654.1:p.Gly1175Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21798G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3112G>A
  hgvsp: ENSP00000358360.3:p.Gly1038Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3112G>A
  hgvsp: ENSP00000358363.4:p.Gly1038Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3523G>A
  hgvsp: ENSP00000358366.4:p.Gly1175Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18503G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3310G>A
  hgvsp: ENSP00000327209.9:p.Gly1104Arg
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19490
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1038Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-144886124-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886124
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21800C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.544C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3521C>A
  hgvsp: ENSP00000358366.4:p.Ala1174Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3308C>A
  hgvsp: ENSP00000327209.9:p.Ala1103Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3110C>A
  hgvsp: ENSP00000358360.3:p.Ala1037Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3110C>A
  hgvsp: ENSP00000358363.4:p.Ala1037Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3521C>A
  hgvsp: ENSP00000435654.1:p.Ala1174Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18501C>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1037Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-144886125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886125
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886125
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3109G>A
  hgvsp: ENSP00000358363.4:p.Ala1037Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.543G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21801G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3520G>A
  hgvsp: ENSP00000435654.1:p.Ala1174Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18500G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3307G>A
  hgvsp: ENSP00000327209.9:p.Ala1103Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3520G>A
  hgvsp: ENSP00000358366.4:p.Ala1174Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3109G>A
  hgvsp: ENSP00000358360.3:p.Ala1037Thr
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1037Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS

1-144886131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886131
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18494G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3103G>A
  hgvsp: ENSP00000358360.3:p.Glu1035Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21807G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3514G>A
  hgvsp: ENSP00000435654.1:p.Glu1172Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3103G>A
  hgvsp: ENSP00000358363.4:p.Glu1035Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.537G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3514G>A
  hgvsp: ENSP00000358366.4:p.Glu1172Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3301G>A
  hgvsp: ENSP00000327209.9:p.Glu1101Lys
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1035Lys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-144886133-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886133
    reference: chr 1
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21809T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3101T>G
  hgvsp: ENSP00000358363.4:p.Ile1034Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3512T>G
  hgvsp: ENSP00000435654.1:p.Ile1171Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3299T>G
  hgvsp: ENSP00000327209.9:p.Ile1100Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.535T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3101T>G
  hgvsp: ENSP00000358360.3:p.Ile1034Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3512T>G
  hgvsp: ENSP00000358366.4:p.Ile1171Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18492T>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19496
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1034Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

1-144886133-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886133
    reference: chr 1
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21809T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3512T>C
  hgvsp: ENSP00000358366.4:p.Ile1171Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.535T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3101T>C
  hgvsp: ENSP00000358360.3:p.Ile1034Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18492T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3299T>C
  hgvsp: ENSP00000327209.9:p.Ile1100Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3101T>C
  hgvsp: ENSP00000358363.4:p.Ile1034Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3512T>C
  hgvsp: ENSP00000435654.1:p.Ile1171Thr
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19496
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
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genotype depth: GenotypeDepth
  all individuals: 1002
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genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 307
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1034Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-144886136-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886136
    reference: chr 1
allele count: 92
allele frequency: 7.577754348972062e-4
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3509A>C
  hgvsp: ENSP00000358366.4:p.Gln1170Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3509A>C
  hgvsp: ENSP00000435654.1:p.Gln1170Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3098A>C
  hgvsp: ENSP00000358360.3:p.Gln1033Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18489A>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3098A>C
  hgvsp: ENSP00000358363.4:p.Gln1033Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21812A>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.532A>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3296A>C
  hgvsp: ENSP00000327209.9:p.Gln1099Pro
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19528
  bin: 9.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1033Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-144886139-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886139
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18486C>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3506C>G
  hgvsp: ENSP00000435654.1:p.Ala1169Gly
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21815C>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3293C>G
  hgvsp: ENSP00000327209.9:p.Ala1098Gly
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3506C>G
  hgvsp: ENSP00000358366.4:p.Ala1169Gly
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3095C>G
  hgvsp: ENSP00000358360.3:p.Ala1032Gly
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.529C>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3095C>G
  hgvsp: ENSP00000358363.4:p.Ala1032Gly
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1032Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-144886140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886140
    reference: chr 1
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3505G>A
  hgvsp: ENSP00000358366.4:p.Ala1169Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3094G>A
  hgvsp: ENSP00000358363.4:p.Ala1032Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3505G>A
  hgvsp: ENSP00000435654.1:p.Ala1169Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.528G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3292G>A
  hgvsp: ENSP00000327209.9:p.Ala1098Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3094G>A
  hgvsp: ENSP00000358360.3:p.Ala1032Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21816G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18485G>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19533
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1032Thr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

1-144886151-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886151
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886151
    reference: chr 1
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3083A>G
  hgvsp: ENSP00000358363.4:p.Lys1028Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3083A>G
  hgvsp: ENSP00000358360.3:p.Lys1028Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3494A>G
  hgvsp: ENSP00000435654.1:p.Lys1165Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3281A>G
  hgvsp: ENSP00000327209.9:p.Lys1094Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21827A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18474A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3494A>G
  hgvsp: ENSP00000358366.4:p.Lys1165Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.517A>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19537
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58364
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1028Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-144886159-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886159
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21835G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3486G>C
  hgvsp: ENSP00000435654.1:p.Glu1162Asp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3486G>C
  hgvsp: ENSP00000358366.4:p.Glu1162Asp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3075G>C
  hgvsp: ENSP00000358360.3:p.Glu1025Asp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3273G>C
  hgvsp: ENSP00000327209.9:p.Glu1091Asp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3075G>C
  hgvsp: ENSP00000358363.4:p.Glu1025Asp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.509G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18466G>C
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19537
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58363
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu1025Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-144886164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886164
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886164
    reference: chr 1
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3481G>A
  hgvsp: ENSP00000358366.4:p.Glu1161Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3481G>A
  hgvsp: ENSP00000435654.1:p.Glu1161Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18461G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3070G>A
  hgvsp: ENSP00000358360.3:p.Glu1024Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.504G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3268G>A
  hgvsp: ENSP00000327209.9:p.Glu1090Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3070G>A
  hgvsp: ENSP00000358363.4:p.Glu1024Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21840G>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19540
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
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genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 58365
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1024Lys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-144886167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886167
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21843G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3478G>A
  hgvsp: ENSP00000358366.4:p.Ala1160Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.501G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18458G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3067G>A
  hgvsp: ENSP00000358363.4:p.Ala1023Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3478G>A
  hgvsp: ENSP00000435654.1:p.Ala1160Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3067G>A
  hgvsp: ENSP00000358360.3:p.Ala1023Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3265G>A
  hgvsp: ENSP00000327209.9:p.Ala1089Thr
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1023Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-144886171-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886171
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18454G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21847G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3474G>C
  hgvsp: ENSP00000358366.4:p.Arg1158Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.497G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3474G>C
  hgvsp: ENSP00000435654.1:p.Arg1158Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3063G>C
  hgvsp: ENSP00000358363.4:p.Arg1021Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3063G>C
  hgvsp: ENSP00000358360.3:p.Arg1021Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3261G>C
  hgvsp: ENSP00000327209.9:p.Arg1087Ser
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 19540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg1021Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

1-144886174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886174
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.494G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21850G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18451G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3471G>A
  hgvsp: ENST00000530740.1:c.3471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3471G>A
  hgvsp: ENST00000369359.4:c.3471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3060G>A
  hgvsp: ENST00000369356.4:c.3060G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3258G>A
  hgvsp: ENST00000313382.9:c.3258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3060G>A
  hgvsp: ENST00000369354.3:c.3060G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1020Lys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-144886184-AAGTGCTGGTGGAACTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886184
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886168
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsp: ENSP00000358366.4:p.Glu1149Ter
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsp: ENSP00000358363.4:p.Glu1012Ter
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsp: ENSP00000327209.9:p.Glu1078Ter
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsp: ENSP00000358360.3:p.Glu1012Ter
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsp: ENSP00000435654.1:p.Glu1149Ter
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1012Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: AAGTGCTGGTGGAACTC
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-144886189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886189
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18436G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21865G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3456G>A
  hgvsp: ENST00000530740.1:c.3456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3456G>A
  hgvsp: ENST00000369359.4:c.3456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3045G>A
  hgvsp: ENST00000369354.3:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3045G>A
  hgvsp: ENST00000369356.4:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3243G>A
  hgvsp: ENST00000313382.9:c.3243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.479G>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19542
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1015Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-144886189-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886189
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3045G>C
  hgvsp: ENSP00000358360.3:p.Gln1015His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3243G>C
  hgvsp: ENSP00000327209.9:p.Gln1081His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21865G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3045G>C
  hgvsp: ENSP00000358363.4:p.Gln1015His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.479G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3456G>C
  hgvsp: ENSP00000358366.4:p.Gln1152His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18436G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3456G>C
  hgvsp: ENSP00000435654.1:p.Gln1152His
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19542
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln1015His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-144886192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886192
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886192
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3042C>T
  hgvsp: ENST00000369356.4:c.3042C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3240C>T
  hgvsp: ENST00000313382.9:c.3240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21868C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18433C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3453C>T
  hgvsp: ENST00000369359.4:c.3453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3453C>T
  hgvsp: ENST00000530740.1:c.3453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3042C>T
  hgvsp: ENST00000369354.3:c.3042C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.476C>T
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19542
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His1014His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

1-144886194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886194
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886194
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18431C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21870C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3238C>T
  hgvsp: ENSP00000327209.9:p.His1080Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3040C>T
  hgvsp: ENSP00000358360.3:p.His1014Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.474C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3040C>T
  hgvsp: ENSP00000358363.4:p.His1014Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3451C>T
  hgvsp: ENSP00000435654.1:p.His1151Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3451C>T
  hgvsp: ENSP00000358366.4:p.His1151Tyr
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19544
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His1014Tyr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-144886196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886196
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3038T>C
  hgvsp: ENSP00000358363.4:p.Phe1013Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21872T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3449T>C
  hgvsp: ENSP00000435654.1:p.Phe1150Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3038T>C
  hgvsp: ENSP00000358360.3:p.Phe1013Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18429T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3236T>C
  hgvsp: ENSP00000327209.9:p.Phe1079Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.472T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3449T>C
  hgvsp: ENSP00000358366.4:p.Phe1150Ser
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe1013Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-144886197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886197
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886197
    reference: chr 1
allele count: 60703
allele frequency: 4.999752907455606e-1
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3037T>A
  hgvsp: ENSP00000358360.3:p.Phe1013Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3448T>A
  hgvsp: ENSP00000358366.4:p.Phe1150Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3037T>A
  hgvsp: ENSP00000358363.4:p.Phe1013Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21873T>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18428T>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3448T>A
  hgvsp: ENSP00000435654.1:p.Phe1150Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3235T>A
  hgvsp: ENSP00000327209.9:p.Phe1079Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.471T>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 59772
  bin: 9.75e1
  variant carriers: 59772
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 60704
  bin: 9.75e1
  variant carriers: 60703
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe1013Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-144886199-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886199
    reference: chr 1
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3035A>T
  hgvsp: ENSP00000358360.3:p.Glu1012Val
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21875A>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18426A>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.469A>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3446A>T
  hgvsp: ENSP00000358366.4:p.Glu1149Val
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3035A>T
  hgvsp: ENSP00000358363.4:p.Glu1012Val
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3233A>T
  hgvsp: ENSP00000327209.9:p.Glu1078Val
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3446A>T
  hgvsp: ENSP00000435654.1:p.Glu1149Val
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38200
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51675
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 538
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu1012Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-144886200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886200
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886200
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3034G>A
  hgvsp: ENSP00000358363.4:p.Glu1012Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3232G>A
  hgvsp: ENSP00000327209.9:p.Glu1078Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3445G>A
  hgvsp: ENSP00000358366.4:p.Glu1149Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3034G>A
  hgvsp: ENSP00000358360.3:p.Glu1012Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.468G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3445G>A
  hgvsp: ENSP00000435654.1:p.Glu1149Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21876G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18425G>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38199
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1012Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

1-144886201-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886201
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886201
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21877T>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.467T>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3231T>A
  hgvsp: ENST00000313382.9:c.3231T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3033T>A
  hgvsp: ENST00000369356.4:c.3033T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3444T>A
  hgvsp: ENST00000369359.4:c.3444T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3444T>A
  hgvsp: ENST00000530740.1:c.3444T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3033T>A
  hgvsp: ENST00000369354.3:c.3033T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18424T>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1011Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-144886204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886204
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3030G>A
  hgvsp: ENST00000369354.3:c.3030G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3228G>A
  hgvsp: ENST00000313382.9:c.3228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21880G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18421G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3441G>A
  hgvsp: ENST00000530740.1:c.3441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3030G>A
  hgvsp: ENST00000369356.4:c.3030G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3441G>A
  hgvsp: ENST00000369359.4:c.3441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.464G>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51657
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1010Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-144886205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886205
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886205
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21881G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3440G>A
  hgvsp: ENSP00000358366.4:p.Arg1147Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3029G>A
  hgvsp: ENSP00000358360.3:p.Arg1010Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3029G>A
  hgvsp: ENSP00000358363.4:p.Arg1010Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18420G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.463G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3440G>A
  hgvsp: ENSP00000435654.1:p.Arg1147Lys
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3227G>A
  hgvsp: ENSP00000327209.9:p.Arg1076Lys
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1010Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-144886211-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886211
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3023A>G
  hgvsp: ENSP00000358363.4:p.His1008Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3434A>G
  hgvsp: ENSP00000435654.1:p.His1145Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18414A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3434A>G
  hgvsp: ENSP00000358366.4:p.His1145Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.457A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3023A>G
  hgvsp: ENSP00000358360.3:p.His1008Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3221A>G
  hgvsp: ENSP00000327209.9:p.His1074Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21887A>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38274
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His1008Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-144886212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886212
    reference: chr 1
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3022C>T
  hgvsp: ENSP00000358363.4:p.His1008Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3220C>T
  hgvsp: ENSP00000327209.9:p.His1074Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3022C>T
  hgvsp: ENSP00000358360.3:p.His1008Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3433C>T
  hgvsp: ENSP00000435654.1:p.His1145Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18413C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21888C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.456C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3433C>T
  hgvsp: ENSP00000358366.4:p.His1145Tyr
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38273
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1008Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-144886215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886215
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3019C>T
  hgvsp: ENSP00000358360.3:p.Leu1007Phe
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21891C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3430C>T
  hgvsp: ENSP00000358366.4:p.Leu1144Phe
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3217C>T
  hgvsp: ENSP00000327209.9:p.Leu1073Phe
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18410C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.453C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3430C>T
  hgvsp: ENSP00000435654.1:p.Leu1144Phe
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3019C>T
  hgvsp: ENSP00000358363.4:p.Leu1007Phe
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1007Phe
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-144886216-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886216
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18409G>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3429G>T
  hgvsp: ENSP00000358366.4:p.Met1143Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3018G>T
  hgvsp: ENSP00000358363.4:p.Met1006Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3018G>T
  hgvsp: ENSP00000358360.3:p.Met1006Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21892G>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3216G>T
  hgvsp: ENSP00000327209.9:p.Met1072Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3429G>T
  hgvsp: ENSP00000435654.1:p.Met1143Ile
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.452G>T
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51655
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met1006Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

1-144886218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886218
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886218
    reference: chr 1
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21894A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18407A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3016A>G
  hgvsp: ENSP00000358363.4:p.Met1006Val
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3427A>G
  hgvsp: ENSP00000435654.1:p.Met1143Val
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3214A>G
  hgvsp: ENSP00000327209.9:p.Met1072Val
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.450A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3427A>G
  hgvsp: ENSP00000358366.4:p.Met1143Val
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3016A>G
  hgvsp: ENSP00000358360.3:p.Met1006Val
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38270
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1006Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-144886220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886220
    reference: chr 1
allele count: 12
allele frequency: 9.883701775771753e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21896A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3212A>G
  hgvsp: ENSP00000327209.9:p.Glu1071Gly
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3425A>G
  hgvsp: ENSP00000435654.1:p.Glu1142Gly
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3425A>G
  hgvsp: ENSP00000358366.4:p.Glu1142Gly
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3014A>G
  hgvsp: ENSP00000358360.3:p.Glu1005Gly
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.448A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18405A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3014A>G
  hgvsp: ENSP00000358363.4:p.Glu1005Gly
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38269
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1005Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-144886222-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886222
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886222
    reference: chr 1
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.446A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21898A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3423A>G
  hgvsp: ENST00000369359.4:c.3423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3423A>G
  hgvsp: ENST00000530740.1:c.3423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3210A>G
  hgvsp: ENST00000313382.9:c.3210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3012A>G
  hgvsp: ENST00000369354.3:c.3012A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3012A>G
  hgvsp: ENST00000369356.4:c.3012A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18403A>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38262
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1004Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

1-144886226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886226
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886226
    reference: chr 1
allele count: 18
allele frequency: 1.482555266365763e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18399A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3008A>G
  hgvsp: ENSP00000358360.3:p.Gln1003Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3206A>G
  hgvsp: ENSP00000327209.9:p.Gln1069Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3419A>G
  hgvsp: ENSP00000358366.4:p.Gln1140Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.442A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21902A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3419A>G
  hgvsp: ENSP00000435654.1:p.Gln1140Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3008A>G
  hgvsp: ENSP00000358363.4:p.Gln1003Arg
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38259
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51649
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 403
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1003Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-144886231-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886231
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.437T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3003T>G
  hgvsp: ENSP00000358363.4:p.Cys1001Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3201T>G
  hgvsp: ENSP00000327209.9:p.Cys1067Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3414T>G
  hgvsp: ENSP00000435654.1:p.Cys1138Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3414T>G
  hgvsp: ENSP00000358366.4:p.Cys1138Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21907T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3003T>G
  hgvsp: ENSP00000358360.3:p.Cys1001Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18394T>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys1001Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-144886231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886231
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3003T>C
  hgvsp: ENST00000369356.4:c.3003T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3003T>C
  hgvsp: ENST00000369354.3:c.3003T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3201T>C
  hgvsp: ENST00000313382.9:c.3201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18394T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3414T>C
  hgvsp: ENST00000530740.1:c.3414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.437T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21907T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3414T>C
  hgvsp: ENST00000369359.4:c.3414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51648
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys1001Cys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-144886232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886232
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886232
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18393G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3002G>A
  hgvsp: ENSP00000358363.4:p.Cys1001Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3200G>A
  hgvsp: ENSP00000327209.9:p.Cys1067Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3413G>A
  hgvsp: ENSP00000435654.1:p.Cys1138Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.436G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3002G>A
  hgvsp: ENSP00000358360.3:p.Cys1001Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3413G>A
  hgvsp: ENSP00000358366.4:p.Cys1138Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21908G>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys1001Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-144886234-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886234
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.3000G>T
  hgvsp: ENSP00000358360.3:p.Arg1000Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3198G>T
  hgvsp: ENSP00000327209.9:p.Arg1066Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3411G>T
  hgvsp: ENSP00000358366.4:p.Arg1137Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18391G>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.434G>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.3000G>T
  hgvsp: ENSP00000358363.4:p.Arg1000Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3411G>T
  hgvsp: ENSP00000435654.1:p.Arg1137Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21910G>T
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1000Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-144886236-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886236
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3409A>T
  hgvsp: ENSP00000358366.4:p.Arg1137Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18389A>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21912A>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2998A>T
  hgvsp: ENSP00000358363.4:p.Arg1000Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3409A>T
  hgvsp: ENSP00000435654.1:p.Arg1137Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.432A>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2998A>T
  hgvsp: ENSP00000358360.3:p.Arg1000Trp
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3196A>T
  hgvsp: ENSP00000327209.9:p.Arg1066Trp
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 38257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1000Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-144886237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886237
    reference: chr 1
allele count: 17
allele frequency: 1.400191084900998e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2997C>T
  hgvsp: ENST00000369354.3:c.2997C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.431C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21913C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2997C>T
  hgvsp: ENST00000369356.4:c.2997C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18388C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3408C>T
  hgvsp: ENST00000369359.4:c.3408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3195C>T
  hgvsp: ENST00000313382.9:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3408C>T
  hgvsp: ENST00000530740.1:c.3408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38257
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 992
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genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn999Asn
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-144886241-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886241
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886241
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18384G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3404G>C
  hgvsp: ENSP00000358366.4:p.Ser1135Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.427G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2993G>C
  hgvsp: ENSP00000358363.4:p.Ser998Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2993G>C
  hgvsp: ENSP00000358360.3:p.Ser998Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3404G>C
  hgvsp: ENSP00000435654.1:p.Ser1135Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3191G>C
  hgvsp: ENSP00000327209.9:p.Ser1064Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21917G>C
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 38247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
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genotype depth: GenotypeDepth
  all individuals: 994
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5602
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser998Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

1-144886243-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886243
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2991C>A
  hgvsp: ENSP00000358363.4:p.Asp997Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21919C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3189C>A
  hgvsp: ENSP00000327209.9:p.Asp1063Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2991C>A
  hgvsp: ENSP00000358360.3:p.Asp997Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18382C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3402C>A
  hgvsp: ENSP00000358366.4:p.Asp1134Glu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.425C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3402C>A
  hgvsp: ENSP00000435654.1:p.Asp1134Glu
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38247
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp997Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-144886245-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886245
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18380G>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21921G>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.423G>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3400G>T
  hgvsp: ENSP00000358366.4:p.Asp1134Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2989G>T
  hgvsp: ENSP00000358360.3:p.Asp997Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3187G>T
  hgvsp: ENSP00000327209.9:p.Asp1063Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3400G>T
  hgvsp: ENSP00000435654.1:p.Asp1134Tyr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2989G>T
  hgvsp: ENSP00000358363.4:p.Asp997Tyr
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38246
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp997Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-144886248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886248
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.420G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3184G>C
  hgvsp: ENSP00000327209.9:p.Gly1062Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18377G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3397G>C
  hgvsp: ENSP00000358366.4:p.Gly1133Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21924G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2986G>C
  hgvsp: ENSP00000358360.3:p.Gly996Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3397G>C
  hgvsp: ENSP00000435654.1:p.Gly1133Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2986G>C
  hgvsp: ENSP00000358363.4:p.Gly996Arg
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38245
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51643
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly996Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-144886249-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886249
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886249
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.419A>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18376A>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3396A>C
  hgvsp: ENST00000369359.4:c.3396A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3396A>C
  hgvsp: ENST00000530740.1:c.3396A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2985A>C
  hgvsp: ENST00000369354.3:c.2985A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3183A>C
  hgvsp: ENST00000313382.9:c.3183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2985A>C
  hgvsp: ENST00000369356.4:c.2985A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21925A>C
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly995Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

1-144886251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886251
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2983G>A
  hgvsp: ENSP00000358360.3:p.Gly995Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21927G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18374G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3394G>A
  hgvsp: ENSP00000358366.4:p.Gly1132Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3394G>A
  hgvsp: ENSP00000435654.1:p.Gly1132Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2983G>A
  hgvsp: ENSP00000358363.4:p.Gly995Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3181G>A
  hgvsp: ENSP00000327209.9:p.Gly1061Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.417G>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38243
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly995Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-144886255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886255
    reference: chr 1
allele count: 46
allele frequency: 3.789064430569513e-4
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21931G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3177G>A
  hgvsp: ENST00000313382.9:c.3177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2979G>A
  hgvsp: ENST00000369356.4:c.2979G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2979G>A
  hgvsp: ENST00000369354.3:c.2979G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18370G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3390G>A
  hgvsp: ENST00000530740.1:c.3390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.413G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3390G>A
  hgvsp: ENST00000369359.4:c.3390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38242
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro993Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-144886256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886256
    reference: chr 1
allele count: 18
allele frequency: 1.482775095968499e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18369C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3176C>T
  hgvsp: ENSP00000327209.9:p.Pro1059Leu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3389C>T
  hgvsp: ENSP00000358366.4:p.Pro1130Leu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.412C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3389C>T
  hgvsp: ENSP00000435654.1:p.Pro1130Leu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21932C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2978C>T
  hgvsp: ENSP00000358360.3:p.Pro993Leu
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2978C>T
  hgvsp: ENSP00000358363.4:p.Pro993Leu
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38223
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro993Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-144886260-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886260
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886260
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3385T>G
  hgvsp: ENSP00000435654.1:p.Ser1129Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3172T>G
  hgvsp: ENSP00000327209.9:p.Ser1058Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3385T>G
  hgvsp: ENSP00000358366.4:p.Ser1129Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.408T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2974T>G
  hgvsp: ENSP00000358363.4:p.Ser992Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2974T>G
  hgvsp: ENSP00000358360.3:p.Ser992Ala
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21936T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18365T>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser992Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

1-144886263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886263
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18362C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3382C>T
  hgvsp: ENSP00000435654.1:p.Pro1128Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2971C>T
  hgvsp: ENSP00000358360.3:p.Pro991Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2971C>T
  hgvsp: ENSP00000358363.4:p.Pro991Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.405C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3169C>T
  hgvsp: ENSP00000327209.9:p.Pro1057Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3382C>T
  hgvsp: ENSP00000358366.4:p.Pro1128Ser
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21939C>T
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro991Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-144886264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886264
    reference: chr 1
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3168T>C
  hgvsp: ENST00000313382.9:c.3168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2970T>C
  hgvsp: ENST00000369356.4:c.2970T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3381T>C
  hgvsp: ENST00000530740.1:c.3381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18361T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3381T>C
  hgvsp: ENST00000369359.4:c.3381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2970T>C
  hgvsp: ENST00000369354.3:c.2970T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.404T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21940T>C
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38219
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro990Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-144886267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886267
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3378C>T
  hgvsp: ENST00000530740.1:c.3378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21943C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2967C>T
  hgvsp: ENST00000369356.4:c.2967C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3165C>T
  hgvsp: ENST00000313382.9:c.3165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.401C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18358C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3378C>T
  hgvsp: ENST00000369359.4:c.3378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2967C>T
  hgvsp: ENST00000369354.3:c.2967C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser989Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-144886267-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886267
    reference: chr 1
allele count: 282
allele frequency: 2.322784705862972e-3
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18358C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2967C>A
  hgvsp: ENST00000369354.3:c.2967C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3378C>A
  hgvsp: ENST00000530740.1:c.3378C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3165C>A
  hgvsp: ENST00000313382.9:c.3165C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21943C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.401C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3378C>A
  hgvsp: ENST00000369359.4:c.3378C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2967C>A
  hgvsp: ENST00000369356.4:c.2967C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38212
  bin: 9.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser989Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-144886268-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886268
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886267
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3376delT
  hgvsp: ENSP00000358366.4:p.Ser1126ProfsTer21
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3163delT
  hgvsp: ENSP00000327209.9:p.Ser1055ProfsTer21
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2965delT
  hgvsp: ENSP00000358360.3:p.Ser989ProfsTer21
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3376delT
  hgvsp: ENSP00000435654.1:p.Ser1126ProfsTer21
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2965delT
  hgvsp: ENSP00000358363.4:p.Ser989ProfsTer21
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18356delT
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.399delT
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21945delT
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51558
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser989ProfsTer21
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: GA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-144886269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886269
    reference: chr 1
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3376T>C
  hgvsp: ENSP00000435654.1:p.Ser1126Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18356T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.399T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2965T>C
  hgvsp: ENSP00000358363.4:p.Ser989Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2965T>C
  hgvsp: ENSP00000358360.3:p.Ser989Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21945T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3376T>C
  hgvsp: ENSP00000358366.4:p.Ser1126Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3163T>C
  hgvsp: ENSP00000327209.9:p.Ser1055Pro
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38101
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51557
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser989Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-144886276-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886276
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3369A>G
  hgvsp: ENST00000369359.4:c.3369A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2958A>G
  hgvsp: ENST00000369354.3:c.2958A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3369A>G
  hgvsp: ENST00000530740.1:c.3369A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3156A>G
  hgvsp: ENST00000313382.9:c.3156A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18349A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.392A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2958A>G
  hgvsp: ENST00000369356.4:c.2958A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21952A>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro986Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

1-144886277-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886277
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21953C>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3368C>G
  hgvsp: ENSP00000435654.1:p.Pro1123Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3368C>G
  hgvsp: ENSP00000358366.4:p.Pro1123Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18348C>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2957C>G
  hgvsp: ENSP00000358363.4:p.Pro986Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2957C>G
  hgvsp: ENSP00000358360.3:p.Pro986Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3155C>G
  hgvsp: ENSP00000327209.9:p.Pro1052Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.391C>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro986Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-144886279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886279
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.389C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3153C>T
  hgvsp: ENST00000313382.9:c.3153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3366C>T
  hgvsp: ENST00000530740.1:c.3366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2955C>T
  hgvsp: ENST00000369354.3:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3366C>T
  hgvsp: ENST00000369359.4:c.3366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18346C>T
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2955C>T
  hgvsp: ENST00000369356.4:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21955C>T
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn985Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-144886285-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886285
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886285
    reference: chr 1
allele count: 20
allele frequency: 1.647799363949446e-4
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3360C>A
  hgvsp: ENST00000530740.1:c.3360C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2949C>A
  hgvsp: ENST00000369354.3:c.2949C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3360C>A
  hgvsp: ENST00000369359.4:c.3360C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21961C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.383C>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2949C>A
  hgvsp: ENST00000369356.4:c.2949C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3147C>A
  hgvsp: ENST00000313382.9:c.3147C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18340C>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38100
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr983Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-144886299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886299
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886299
    reference: chr 1
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3133G>C
  hgvsp: ENSP00000327209.9:p.Ala1045Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18326G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2935G>C
  hgvsp: ENSP00000358360.3:p.Ala979Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.369G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21975G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3346G>C
  hgvsp: ENSP00000358366.4:p.Ala1116Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2935G>C
  hgvsp: ENSP00000358363.4:p.Ala979Pro
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3346G>C
  hgvsp: ENSP00000435654.1:p.Ala1116Pro
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38095
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala979Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-144886299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886299
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886299
    reference: chr 1
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3346G>A
  hgvsp: ENSP00000358366.4:p.Ala1116Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.369G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2935G>A
  hgvsp: ENSP00000358360.3:p.Ala979Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2935G>A
  hgvsp: ENSP00000358363.4:p.Ala979Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3346G>A
  hgvsp: ENSP00000435654.1:p.Ala1116Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3133G>A
  hgvsp: ENSP00000327209.9:p.Ala1045Thr
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21975G>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18326G>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38095
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala979Thr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-144886301-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886301
    reference: chr 1
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21977T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2933T>G
  hgvsp: ENSP00000358363.4:p.Leu978Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.367T>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3131T>G
  hgvsp: ENSP00000327209.9:p.Leu1044Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2933T>G
  hgvsp: ENSP00000358360.3:p.Leu978Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3344T>G
  hgvsp: ENSP00000435654.1:p.Leu1115Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3344T>G
  hgvsp: ENSP00000358366.4:p.Leu1115Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18324T>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38094
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu978Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

1-144886303-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886303
    reference: chr 1
allele count: 4
allele frequency: 3.299458888742246e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21979T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2931T>C
  hgvsp: ENST00000369356.4:c.2931T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3342T>C
  hgvsp: ENST00000530740.1:c.3342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.365T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3129T>C
  hgvsp: ENST00000313382.9:c.3129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18322T>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3342T>C
  hgvsp: ENST00000369359.4:c.3342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2931T>C
  hgvsp: ENST00000369354.3:c.2931T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38094
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser977Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

1-144886307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886307
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886307
    reference: chr 1
allele count: 5
allele frequency: 4.125004125004125e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18318A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3338A>G
  hgvsp: ENSP00000358366.4:p.Lys1113Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2927A>G
  hgvsp: ENSP00000358363.4:p.Lys976Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3338A>G
  hgvsp: ENSP00000435654.1:p.Lys1113Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3125A>G
  hgvsp: ENSP00000327209.9:p.Lys1042Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2927A>G
  hgvsp: ENSP00000358360.3:p.Lys976Arg
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.361A>G
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21983A>G
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38094
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys976Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-144886312-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886312
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886312
    reference: chr 1
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3333G>C
  hgvsp: ENSP00000435654.1:p.Leu1111Phe
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18313G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2922G>C
  hgvsp: ENSP00000358360.3:p.Leu974Phe
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.356G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3120G>C
  hgvsp: ENSP00000327209.9:p.Leu1040Phe
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-21988G>C
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3333G>C
  hgvsp: ENSP00000358366.4:p.Leu1111Phe
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2922G>C
  hgvsp: ENSP00000358363.4:p.Leu974Phe
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38092
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51548
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu974Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-144886328-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 144886328
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 144886328
    reference: chr 1
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358363
  ensembl transcript: ENST00000369356
  gene symbol: PDE4DIP
  hgvsc: ENST00000369356.4:c.2906T>A
  hgvsp: ENSP00000358363.4:p.Leu969His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358366
  ensembl transcript: ENST00000369359
  gene symbol: PDE4DIP
  hgvsc: ENST00000369359.4:c.3317T>A
  hgvsp: ENSP00000358366.4:p.Leu1106His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000327209
  ensembl transcript: ENST00000313382
  gene symbol: PDE4DIP
  hgvsc: ENST00000313382.9:c.3104T>A
  hgvsp: ENSP00000327209.9:p.Leu1035His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000524974
  gene symbol: PDE4DIP
  hgvsc: ENST00000524974.1:n.340T>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl transcript: ENST00000525886
  gene symbol: PDE4DIP
  hgvsc: ENST00000525886.1:n.294-22004T>A
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000435654
  ensembl transcript: ENST00000530740
  gene symbol: PDE4DIP
  hgvsc: ENST00000530740.1:c.3317T>A
  hgvsp: ENSP00000435654.1:p.Leu1106His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000358360
  ensembl transcript: ENST00000369354
  gene symbol: PDE4DIP
  hgvsc: ENST00000369354.3:c.2906T>A
  hgvsp: ENSP00000358360.3:p.Leu969His
  variant of: http://identifiers.org/hgnc/15580
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178104
  ensembl protein: ENSP00000436694
  ensembl transcript: ENST00000530062
  gene symbol: PDE4DIP
  hgvsc: ENST00000530062.1:c.90+18297T>A
  variant of: http://identifiers.org/hgnc/15580
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu969His
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58349
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.918e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.09e-1

DP
type: SiteQuality
SIO_000300: 5.282497e6

VQSLOD
type: SiteQuality
SIO_000300: -2.326e0

QD
type: SiteQuality
SIO_000300: 4.59e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58356
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

QD
type: SiteQuality
SIO_000300: 5.04e0

FS
type: SiteQuality
SIO_000300: 4.959e0

DP
type: SiteQuality
SIO_000300: 5.283129e6

VQSLOD
type: SiteQuality
SIO_000300: -1.728e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58357
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.492208103572285e-5
allele num: 66736
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 5.28334e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 1.506e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.978e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

QD
type: SiteQuality
SIO_000300: 4.4e0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58359
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 3.59e0

VQSLOD
type: SiteQuality
SIO_000300: -3.468e0

DP
type: SiteQuality
SIO_000300: 5.283787e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

FS
type: SiteQuality
SIO_000300: 5.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.664e0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 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: 16512
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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African
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Latino
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allele frequency: 0.0e0
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East Asian
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FS
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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Latino
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South Asian
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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Latino
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allele count: 0
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African
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South Asian
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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MQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQ
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QD
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Latino
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Other
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QD
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FS
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 8.990110878034162e-5
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Latino
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East Asian
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South Asian
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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MQRankSum
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QD
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
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FS
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66740
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South Asian
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African
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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Latino
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQ
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SIO_000300: 5.984e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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FS
type: SiteQuality
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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FS
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QD
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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African
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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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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European (Finnish)
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East Asian
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African
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South Asian
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11578
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African
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

East Asian
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InbreedingCoeff
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FS
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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FS
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QD
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 5789
allele frequency: 5.0e-1
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 33369
allele frequency: 4.999850164818699e-1
allele num: 66740
num of homozygotes: 0

African
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allele frequency: 5.0e-1
allele num: 10406
num of homozygotes: 0

Other
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allele count: 454
allele frequency: 5.0e-1
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South Asian
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allele frequency: 4.999394379844961e-1
allele num: 16512
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East Asian
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allele frequency: 5.0e-1
allele num: 8654
num of homozygotes: 0

European (Finnish)
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allele count: 3306
allele frequency: 4.998488055639552e-1
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
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FS
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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Latino
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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 count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Other
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European (Finnish)
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Latino
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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African
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East Asian
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MQ
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FS
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DP
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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DP
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MQRankSum
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QD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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Other
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ClippingRankSum
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MQ
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FS
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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: 8654
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 3.41e-1

ReadPosRankSum
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SIO_000300: 8.49e-1

ClippingRankSum
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FS
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QD
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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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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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
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DP
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

South Asian
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East Asian
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
SIO_000300: 7.378774e6

MQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.51e0

QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.929999999999999e-1

BaseQRankSum
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MQ
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SIO_000300: 5.969e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.153180857197771e-3
allele num: 10406
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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allele num: 66740
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East Asian
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Latino
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 2.267916540671303e-3
allele num: 6614
num of homozygotes: 0

Latino
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East Asian
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African
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European (Non-Finnish)
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allele num: 66740
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Other
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South Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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Other
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Finnish)
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African
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Other
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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Latino
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East Asian
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Other
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European (Non-Finnish)
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DP
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Other
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African
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FS
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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MQ
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FS
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ReadPosRankSum
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DP
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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FS
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VQSLOD
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
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GenotypeQuality
all individuals: 5596
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

QD
type: SiteQuality
SIO_000300: 3.65e0

VQSLOD
type: SiteQuality
SIO_000300: -2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 1.5753e1

DP
type: SiteQuality
SIO_000300: 7.372497e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.37206e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
SIO_000300: -1.585e0

QD
type: SiteQuality
SIO_000300: 6.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-1

GenotypeQuality
all individuals: 5
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 45

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

GenotypeQuality
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GenotypeQuality
all individuals: 5571
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.845414343395501e-4
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.544400155842599e-4
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

DP
type: SiteQuality
SIO_000300: 7.37429e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: -4.411e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 4.41e0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 10
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991188635137565e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.139e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 4.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.367651e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 535
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GenotypeQuality
all individuals: 8
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.676e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.706e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.364884e6

QD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 547
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 7.365286e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.184e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.289e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 4.582e0

VQSLOD
type: SiteQuality
SIO_000300: -4.064e0

QD
type: SiteQuality
SIO_000300: 4.01e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.334e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.52218e2

QD
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.778e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.161e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e0

DP
type: SiteQuality
SIO_000300: 7.36588e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 532
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 4.16e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.241e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.617e0

DP
type: SiteQuality
SIO_000300: 7.377841e6

GenotypeQuality
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variant carriers: 280

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.381931248920366e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 161
allele frequency: 1.547779273216689e-2
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 92
allele frequency: 1.378524978273248e-3
allele num: 66738
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.377841e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.241e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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Latino
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African
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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African
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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African
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East Asian
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ReadPosRankSum
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QD
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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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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66732
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Other
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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BaseQRankSum
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QD
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DP
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MQRankSum
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 11578
num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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African
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East Asian
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European (Non-Finnish)
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QD
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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East Asian
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Latino
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South Asian
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ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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FS
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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Other
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Latino
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51554
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 3.58e0

FS
type: SiteQuality
SIO_000300: 3.498e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.269e0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 7.328902e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51553
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 5
allele frequency: 3.034717164360282e-4
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.63e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: -1.502e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 7.327981e6

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.48e0

FS
type: SiteQuality
SIO_000300: 1.829e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

DP
type: SiteQuality
SIO_000300: 7.32515e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.41e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.009e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

QD
type: SiteQuality
SIO_000300: 4.23e0