7-77549687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549687
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549687
    reference: chr 7
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.868G>A
  hgvsp: ENSP00000248550.7:p.Glu290Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.766G>A
  hgvsp: ENSP00000400958.2:p.Glu256Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.754G>A
  hgvsp: ENSP00000275575.7:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.766G>A
  hgvsp: ENSP00000387355.1:p.Glu256Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.789G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.766G>A
  hgvsp: ENSP00000403042.2:p.Glu256Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.754G>A
  hgvsp: ENSP00000408035.2:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.754G>A
  hgvsp: ENSP00000307699.8:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1567G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.754G>A
  hgvsp: ENSP00000403620.1:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu256Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-77549698-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549698
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549698
    reference: chr 7
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.765A>G
  hgvsp: ENSP00000403620.1:p.Ile255Met
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.777A>G
  hgvsp: ENSP00000403042.2:p.Ile259Met
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.777A>G
  hgvsp: ENSP00000400958.2:p.Ile259Met
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.765A>G
  hgvsp: ENSP00000307699.8:p.Ile255Met
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.879A>G
  hgvsp: ENSP00000248550.7:p.Ile293Met
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.777A>G
  hgvsp: ENSP00000387355.1:p.Ile259Met
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.765A>G
  hgvsp: ENSP00000275575.7:p.Ile255Met
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.765A>G
  hgvsp: ENSP00000408035.2:p.Ile255Met
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.800A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1578A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile259Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

7-77549700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549700
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549700
    reference: chr 7
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.767A>G
  hgvsp: ENSP00000403620.1:p.Gln256Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.779A>G
  hgvsp: ENSP00000403042.2:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.779A>G
  hgvsp: ENSP00000400958.2:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.767A>G
  hgvsp: ENSP00000408035.2:p.Gln256Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.779A>G
  hgvsp: ENSP00000387355.1:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.881A>G
  hgvsp: ENSP00000248550.7:p.Gln294Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.767A>G
  hgvsp: ENSP00000275575.7:p.Gln256Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.767A>G
  hgvsp: ENSP00000307699.8:p.Gln256Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1580A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.802A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln260Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

7-77549701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549701
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549701
    reference: chr 7
allele count: 2
allele frequency: 1.660026560424967e-5
allele num: 120480
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.780A>G
  hgvsp: ENST00000416283.2:c.780A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.768A>G
  hgvsp: ENST00000415251.2:c.768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.780A>G
  hgvsp: ENST00000422959.2:c.780A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.768A>G
  hgvsp: ENST00000275575.7:c.768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.780A>G
  hgvsp: ENST00000450574.1:c.780A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1581A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.768A>G
  hgvsp: ENST00000424760.1:c.768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.882A>G
  hgvsp: ENST00000248550.7:c.882A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.803A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.768A>G
  hgvsp: ENST00000307305.8:c.768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln260Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-77549703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549703
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549703
    reference: chr 7
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.770A>G
  hgvsp: ENSP00000275575.7:p.Asn257Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.782A>G
  hgvsp: ENSP00000403042.2:p.Asn261Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.782A>G
  hgvsp: ENSP00000387355.1:p.Asn261Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.805A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.770A>G
  hgvsp: ENSP00000408035.2:p.Asn257Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.782A>G
  hgvsp: ENSP00000400958.2:p.Asn261Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.770A>G
  hgvsp: ENSP00000403620.1:p.Asn257Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.770A>G
  hgvsp: ENSP00000307699.8:p.Asn257Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1583A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.884A>G
  hgvsp: ENSP00000248550.7:p.Asn295Ser
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn261Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-77549704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549704
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549704
    reference: chr 7
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1584C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.783C>T
  hgvsp: ENST00000450574.1:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.771C>T
  hgvsp: ENST00000424760.1:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.783C>T
  hgvsp: ENST00000416283.2:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.771C>T
  hgvsp: ENST00000307305.8:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.771C>T
  hgvsp: ENST00000415251.2:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.885C>T
  hgvsp: ENST00000248550.7:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.783C>T
  hgvsp: ENST00000422959.2:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.806C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.771C>T
  hgvsp: ENST00000275575.7:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn261Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

7-77549705-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549705
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549705
    reference: chr 7
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.784C>G
  hgvsp: ENSP00000387355.1:p.His262Asp
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.886C>G
  hgvsp: ENSP00000248550.7:p.His296Asp
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.784C>G
  hgvsp: ENSP00000403042.2:p.His262Asp
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.772C>G
  hgvsp: ENSP00000275575.7:p.His258Asp
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.784C>G
  hgvsp: ENSP00000400958.2:p.His262Asp
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.772C>G
  hgvsp: ENSP00000408035.2:p.His258Asp
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.772C>G
  hgvsp: ENSP00000403620.1:p.His258Asp
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1585C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.772C>G
  hgvsp: ENSP00000307699.8:p.His258Asp
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.807C>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His262Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-77549706-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549706
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549706
    reference: chr 7
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.773A>G
  hgvsp: ENSP00000408035.2:p.His258Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.785A>G
  hgvsp: ENSP00000387355.1:p.His262Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.773A>G
  hgvsp: ENSP00000403620.1:p.His258Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.785A>G
  hgvsp: ENSP00000400958.2:p.His262Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.887A>G
  hgvsp: ENSP00000248550.7:p.His296Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.808A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.773A>G
  hgvsp: ENSP00000275575.7:p.His258Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.785A>G
  hgvsp: ENSP00000403042.2:p.His262Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1586A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.773A>G
  hgvsp: ENSP00000307699.8:p.His258Arg
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His262Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-77549714-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549714
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549714
    reference: chr 7
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.895C>G
  hgvsp: ENSP00000248550.7:p.Gln299Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.793C>G
  hgvsp: ENSP00000387355.1:p.Gln265Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.781C>G
  hgvsp: ENSP00000403620.1:p.Gln261Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.781C>G
  hgvsp: ENSP00000408035.2:p.Gln261Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.793C>G
  hgvsp: ENSP00000400958.2:p.Gln265Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.816C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.781C>G
  hgvsp: ENSP00000307699.8:p.Gln261Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1594C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.781C>G
  hgvsp: ENSP00000275575.7:p.Gln261Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.793C>G
  hgvsp: ENSP00000403042.2:p.Gln265Glu
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln265Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/7-77549715-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549715
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549715
    reference: chr 7
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.782A>C
  hgvsp: ENSP00000275575.7:p.Gln261Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.896A>C
  hgvsp: ENSP00000248550.7:p.Gln299Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.782A>C
  hgvsp: ENSP00000307699.8:p.Gln261Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.794A>C
  hgvsp: ENSP00000403042.2:p.Gln265Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1595A>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.782A>C
  hgvsp: ENSP00000408035.2:p.Gln261Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.794A>C
  hgvsp: ENSP00000387355.1:p.Gln265Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.794A>C
  hgvsp: ENSP00000400958.2:p.Gln265Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.782A>C
  hgvsp: ENSP00000403620.1:p.Gln261Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.817A>C
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln265Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-77549717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549717
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549717
    reference: chr 7
allele count: 2
allele frequency: 1.658209796703479e-5
allele num: 120612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.784T>C
  hgvsp: ENSP00000307699.8:p.Cys262Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.796T>C
  hgvsp: ENSP00000400958.2:p.Cys266Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.796T>C
  hgvsp: ENSP00000387355.1:p.Cys266Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.784T>C
  hgvsp: ENSP00000403620.1:p.Cys262Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.819T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.784T>C
  hgvsp: ENSP00000275575.7:p.Cys262Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1597T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.796T>C
  hgvsp: ENSP00000403042.2:p.Cys266Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.898T>C
  hgvsp: ENSP00000248550.7:p.Cys300Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.784T>C
  hgvsp: ENSP00000408035.2:p.Cys262Arg
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys266Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

7-77549724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549724
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549724
    reference: chr 7
allele count: 12
allele frequency: 9.946949602122016e-5
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1604C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.826C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.791C>G
  hgvsp: ENSP00000275575.7:p.Thr264Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.803C>G
  hgvsp: ENSP00000387355.1:p.Thr268Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.791C>G
  hgvsp: ENSP00000408035.2:p.Thr264Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.803C>G
  hgvsp: ENSP00000400958.2:p.Thr268Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.803C>G
  hgvsp: ENSP00000403042.2:p.Thr268Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.791C>G
  hgvsp: ENSP00000403620.1:p.Thr264Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.905C>G
  hgvsp: ENSP00000248550.7:p.Thr302Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.791C>G
  hgvsp: ENSP00000307699.8:p.Thr264Ser
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr268Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

7-77549726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549726
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549726
    reference: chr 7
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.805A>G
  hgvsp: ENSP00000400958.2:p.Ile269Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.793A>G
  hgvsp: ENSP00000307699.8:p.Ile265Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1606A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.805A>G
  hgvsp: ENSP00000403042.2:p.Ile269Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.828A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.793A>G
  hgvsp: ENSP00000403620.1:p.Ile265Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.793A>G
  hgvsp: ENSP00000408035.2:p.Ile265Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.907A>G
  hgvsp: ENSP00000248550.7:p.Ile303Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.805A>G
  hgvsp: ENSP00000387355.1:p.Ile269Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.793A>G
  hgvsp: ENSP00000275575.7:p.Ile265Val
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49482
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile269Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-77549730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549730
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549730
    reference: chr 7
allele count: 3
allele frequency: 2.486572508454347e-5
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.911G>A
  hgvsp: ENSP00000248550.7:p.Arg304Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.797G>A
  hgvsp: ENSP00000408035.2:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.797G>A
  hgvsp: ENSP00000403620.1:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.809G>A
  hgvsp: ENSP00000403042.2:p.Arg270Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.832G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.797G>A
  hgvsp: ENSP00000275575.7:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.809G>A
  hgvsp: ENSP00000400958.2:p.Arg270Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.797G>A
  hgvsp: ENSP00000307699.8:p.Arg266Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1610G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.809G>A
  hgvsp: ENSP00000387355.1:p.Arg270Gln
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg270Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

7-77549742-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549742
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549742
    reference: chr 7
allele count: 2
allele frequency: 1.657632569164719e-5
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.923C>G
  hgvsp: ENSP00000248550.7:p.Thr308Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.809C>G
  hgvsp: ENSP00000408035.2:p.Thr270Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.809C>G
  hgvsp: ENSP00000275575.7:p.Thr270Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.821C>G
  hgvsp: ENSP00000400958.2:p.Thr274Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.1C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.821C>G
  hgvsp: ENSP00000387355.1:p.Thr274Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.809C>G
  hgvsp: ENSP00000403620.1:p.Thr270Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.809C>G
  hgvsp: ENSP00000307699.8:p.Thr270Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.821C>G
  hgvsp: ENSP00000403042.2:p.Thr274Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.844C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1622C>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr274Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

7-77549743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549743
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549743
    reference: chr 7
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.810A>G
  hgvsp: ENST00000275575.7:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.845A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.810A>G
  hgvsp: ENST00000415251.2:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.810A>G
  hgvsp: ENST00000424760.1:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.2A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.822A>G
  hgvsp: ENST00000416283.2:c.822A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1623A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.822A>G
  hgvsp: ENST00000450574.1:c.822A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.810A>G
  hgvsp: ENST00000307305.8:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.822A>G
  hgvsp: ENST00000422959.2:c.822A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.924A>G
  hgvsp: ENST00000248550.7:c.924A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr274Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

7-77549744-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549744
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549744
    reference: chr 7
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.823G>T
  hgvsp: ENSP00000387355.1:p.Ala275Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.846G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.823G>T
  hgvsp: ENSP00000400958.2:p.Ala275Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.925G>T
  hgvsp: ENSP00000248550.7:p.Ala309Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.811G>T
  hgvsp: ENSP00000403620.1:p.Ala271Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1624G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.811G>T
  hgvsp: ENSP00000275575.7:p.Ala271Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.811G>T
  hgvsp: ENSP00000307699.8:p.Ala271Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.811G>T
  hgvsp: ENSP00000408035.2:p.Ala271Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.823G>T
  hgvsp: ENSP00000403042.2:p.Ala275Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.3G>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala275Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-77549756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549756
    reference: chr 7
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.835G>A
  hgvsp: ENSP00000400958.2:p.Gly279Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.858G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.823G>A
  hgvsp: ENSP00000408035.2:p.Gly275Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.823G>A
  hgvsp: ENSP00000307699.8:p.Gly275Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.835G>A
  hgvsp: ENSP00000387355.1:p.Gly279Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.823G>A
  hgvsp: ENSP00000275575.7:p.Gly275Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.937G>A
  hgvsp: ENSP00000248550.7:p.Gly313Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.823G>A
  hgvsp: ENSP00000403620.1:p.Gly275Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1636G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.835G>A
  hgvsp: ENSP00000403042.2:p.Gly279Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.15G>A
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly279Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

7-77549759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549759
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549759
    reference: chr 7
allele count: 57
allele frequency: 4.724801061007957e-4
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.940A>G
  hgvsp: ENSP00000248550.7:p.Thr314Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.838A>G
  hgvsp: ENSP00000387355.1:p.Thr280Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.826A>G
  hgvsp: ENSP00000275575.7:p.Thr276Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.18A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.826A>G
  hgvsp: ENSP00000403620.1:p.Thr276Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.838A>G
  hgvsp: ENSP00000403042.2:p.Thr280Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.838A>G
  hgvsp: ENSP00000400958.2:p.Thr280Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.861A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.826A>G
  hgvsp: ENSP00000408035.2:p.Thr276Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1639A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.826A>G
  hgvsp: ENSP00000307699.8:p.Thr276Ala
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Thr280Ala
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

7-77549759-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549759
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549759
    reference: chr 7
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1639A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.18A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.826A>T
  hgvsp: ENSP00000403620.1:p.Thr276Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.838A>T
  hgvsp: ENSP00000403042.2:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.826A>T
  hgvsp: ENSP00000275575.7:p.Thr276Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.826A>T
  hgvsp: ENSP00000307699.8:p.Thr276Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.838A>T
  hgvsp: ENSP00000400958.2:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.838A>T
  hgvsp: ENSP00000387355.1:p.Thr280Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.940A>T
  hgvsp: ENSP00000248550.7:p.Thr314Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.826A>T
  hgvsp: ENSP00000408035.2:p.Thr276Ser
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.861A>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr280Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-77549786-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549786
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549786
    reference: chr 7
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.849+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.861+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.41+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.861+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.963+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.849+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.849+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.849+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.861+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1662+4C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.884+4C>A
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.861+4C>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

7-77549786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549786
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549786
    reference: chr 7
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.861+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.849+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.861+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.884+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.861+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.41+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.849+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.849+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.849+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.963+4C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1662+4C>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.861+4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

7-77549787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549787
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549787
    reference: chr 7
allele count: 9
allele frequency: 7.472104144527099e-5
allele num: 120448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1662+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.849+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.849+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.861+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.849+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.861+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.861+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.849+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.963+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.41+5G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.884+5G>A
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.861+5G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

7-77549798-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549798
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549798
    reference: chr 7
allele count: 3
allele frequency: 2.494636531457367e-5
allele num: 120258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.849+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.861+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.849+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1662+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.41+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.884+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.861+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.861+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.849+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.963+16A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.849+16A>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

7-77549810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549810
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549810
    reference: chr 7
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.849+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.861+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.41+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.849+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.963+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.861+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.861+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.849+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.849+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1662+28C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.884+28C>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-77549812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549812
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549812
    reference: chr 7
allele count: 1
allele frequency: 8.331666999933347e-6
allele num: 120024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1662+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.884+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.963+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.849+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.861+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.41+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.849+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.861+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.861+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.849+30A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.849+30A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

7-77549826-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549826
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549826
    reference: chr 7
allele count: 1
allele frequency: 8.364141253617491e-6
allele num: 119558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.849+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.963+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1662+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.849+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.861+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.861+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.861+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.41+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.884+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.849+44T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.849+44T>C
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-77549832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77549832
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77549832
    reference: chr 7
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.849+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.849+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.849+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.861+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.884+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.861+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.963+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1662+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.41+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.861+50A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.849+50A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-77551893-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551893
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551893
    reference: chr 7
allele count: 2
allele frequency: 2.519526329050139e-5
allele num: 79380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-47G>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-47G>C
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20064
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5050
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

7-77551893-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551893
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551893
    reference: chr 7
allele count: 5
allele frequency: 6.298815822625347e-5
allele num: 79380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-47G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-47G>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20064
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

7-77551911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551911
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551911
    reference: chr 7
allele count: 1
allele frequency: 1.213651148113986e-5
allele num: 82396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-29A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-29A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

7-77551914-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551914
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551914
    reference: chr 7
allele count: 1
allele frequency: 1.200105609293618e-5
allele num: 83326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-26A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-26A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS

7-77551916-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551916
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551914
    reference: chr 7
allele count: 1
allele frequency: 1.190759704691593e-5
allele num: 83980
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-21_862-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-21_964-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-21_42-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-21_850-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-21_1663-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-21_862-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-21_862-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-21_885-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-21_850-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-21_850-20delCT
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-21_850-20delCT
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: CCT
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-77551927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551927
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551927
    reference: chr 7
allele count: 1
allele frequency: 1.111160496022045e-5
allele num: 89996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-13A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-13A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-77551930-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551930
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551930
    reference: chr 7
allele count: 2
allele frequency: 2.18488496580655e-5
allele num: 91538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-10C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-10C>A
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29692
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-77551932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551932
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551932
    reference: chr 7
allele count: 1
allele frequency: 1.07993693168319e-5
allele num: 92598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-8C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-8C>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.862-8C>T
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-77551935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551935
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551935
    reference: chr 7
allele count: 4
allele frequency: 4.260758414997869e-5
allele num: 93880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.850-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.885-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.862-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.42-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.850-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.964-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.862-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.850-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.862-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.850-5C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1663-5C>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31274
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.862-5C>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/7-77551945-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551945
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551945
    reference: chr 7
allele count: 3
allele frequency: 3.056732963808281e-5
allele num: 98144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.867C>A
  hgvsp: ENST00000450574.1:c.867C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.855C>A
  hgvsp: ENST00000307305.8:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.47C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.855C>A
  hgvsp: ENST00000424760.1:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.855C>A
  hgvsp: ENST00000415251.2:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.867C>A
  hgvsp: ENST00000416283.2:c.867C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.969C>A
  hgvsp: ENST00000248550.7:c.969C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.867C>A
  hgvsp: ENST00000422959.2:c.867C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.855C>A
  hgvsp: ENST00000275575.7:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.890C>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1668C>A
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr289Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

7-77551959-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551959
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551959
    reference: chr 7
allele count: 23
allele frequency: 2.297380985676329e-4
allele num: 100114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.881C>G
  hgvsp: ENSP00000387355.1:p.Thr294Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.881C>G
  hgvsp: ENSP00000400958.2:p.Thr294Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.869C>G
  hgvsp: ENSP00000408035.2:p.Thr290Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.881C>G
  hgvsp: ENSP00000403042.2:p.Thr294Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.983C>G
  hgvsp: ENSP00000248550.7:p.Thr328Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1682C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.869C>G
  hgvsp: ENSP00000403620.1:p.Thr290Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.869C>G
  hgvsp: ENSP00000275575.7:p.Thr290Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.61C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.869C>G
  hgvsp: ENSP00000307699.8:p.Thr290Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.904C>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33540
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr294Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

7-77551966-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551966
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551966
    reference: chr 7
allele count: 3
allele frequency: 2.996284607087212e-5
allele num: 100124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.876C>G
  hgvsp: ENST00000424760.1:c.876C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.876C>G
  hgvsp: ENST00000307305.8:c.876C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.911C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.888C>G
  hgvsp: ENST00000450574.1:c.888C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.990C>G
  hgvsp: ENST00000248550.7:c.990C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.888C>G
  hgvsp: ENST00000416283.2:c.888C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.876C>G
  hgvsp: ENST00000275575.7:c.876C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.888C>G
  hgvsp: ENST00000422959.2:c.888C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.876C>G
  hgvsp: ENST00000415251.2:c.876C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.68C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1689C>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32735
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val296Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

7-77551969-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551969
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551969
    reference: chr 7
allele count: 1
allele frequency: 1.00060036021613e-5
allele num: 99940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.879T>C
  hgvsp: ENST00000424760.1:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.891T>C
  hgvsp: ENST00000422959.2:c.891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.71T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.993T>C
  hgvsp: ENST00000248550.7:c.993T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.891T>C
  hgvsp: ENST00000416283.2:c.891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.891T>C
  hgvsp: ENST00000450574.1:c.891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.914T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.879T>C
  hgvsp: ENST00000307305.8:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1692T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.879T>C
  hgvsp: ENST00000275575.7:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.879T>C
  hgvsp: ENST00000415251.2:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser297Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

7-77551972-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551972
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551972
    reference: chr 7
allele count: 1
allele frequency: 1.000740548005524e-5
allele num: 99926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.882T>G
  hgvsp: ENSP00000408035.2:p.Asp294Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1695T>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.894T>G
  hgvsp: ENSP00000403042.2:p.Asp298Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.74T>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.882T>G
  hgvsp: ENSP00000307699.8:p.Asp294Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.894T>G
  hgvsp: ENSP00000387355.1:p.Asp298Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.882T>G
  hgvsp: ENSP00000403620.1:p.Asp294Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.996T>G
  hgvsp: ENSP00000248550.7:p.Asp332Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.917T>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.882T>G
  hgvsp: ENSP00000275575.7:p.Asp294Glu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.894T>G
  hgvsp: ENSP00000400958.2:p.Asp298Glu
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp298Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-77551980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551980
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551980
    reference: chr 7
allele count: 1
allele frequency: 1.010325526884762e-5
allele num: 98978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.890C>T
  hgvsp: ENSP00000408035.2:p.Ser297Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.890C>T
  hgvsp: ENSP00000275575.7:p.Ser297Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.902C>T
  hgvsp: ENSP00000400958.2:p.Ser301Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.890C>T
  hgvsp: ENSP00000403620.1:p.Ser297Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.902C>T
  hgvsp: ENSP00000387355.1:p.Ser301Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.902C>T
  hgvsp: ENSP00000403042.2:p.Ser301Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.82C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1004C>T
  hgvsp: ENSP00000248550.7:p.Ser335Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1703C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.890C>T
  hgvsp: ENSP00000307699.8:p.Ser297Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.925C>T
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser301Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

7-77551997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77551997
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77551997
    reference: chr 7
allele count: 6
allele frequency: 6.263048016701462e-5
allele num: 95800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.919G>A
  hgvsp: ENSP00000403042.2:p.Glu307Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.919G>A
  hgvsp: ENSP00000387355.1:p.Glu307Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1720G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1021G>A
  hgvsp: ENSP00000248550.7:p.Glu341Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.99G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.942G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.907G>A
  hgvsp: ENSP00000403620.1:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.919G>A
  hgvsp: ENSP00000400958.2:p.Glu307Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.907G>A
  hgvsp: ENSP00000307699.8:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.907G>A
  hgvsp: ENSP00000408035.2:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.907G>A
  hgvsp: ENSP00000275575.7:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26664
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu307Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

7-77552000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552000
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552000
    reference: chr 7
allele count: 1
allele frequency: 1.049075764251694e-5
allele num: 95322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.910A>G
  hgvsp: ENSP00000275575.7:p.Thr304Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.102A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.910A>G
  hgvsp: ENSP00000403620.1:p.Thr304Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1723A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.922A>G
  hgvsp: ENSP00000387355.1:p.Thr308Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.910A>G
  hgvsp: ENSP00000307699.8:p.Thr304Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.910A>G
  hgvsp: ENSP00000408035.2:p.Thr304Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1024A>G
  hgvsp: ENSP00000248550.7:p.Thr342Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.922A>G
  hgvsp: ENSP00000403042.2:p.Thr308Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.922A>G
  hgvsp: ENSP00000400958.2:p.Thr308Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.945A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr308Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

7-77552004-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552004
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552004
    reference: chr 7
allele count: 1
allele frequency: 1.061796559779146e-5
allele num: 94180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.914G>T
  hgvsp: ENSP00000275575.7:p.Gly305Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.914G>T
  hgvsp: ENSP00000403620.1:p.Gly305Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1028G>T
  hgvsp: ENSP00000248550.7:p.Gly343Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.914G>T
  hgvsp: ENSP00000307699.8:p.Gly305Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.926G>T
  hgvsp: ENSP00000387355.1:p.Gly309Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.926G>T
  hgvsp: ENSP00000403042.2:p.Gly309Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1727G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.949G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.914G>T
  hgvsp: ENSP00000408035.2:p.Gly305Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.106G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.926G>T
  hgvsp: ENSP00000400958.2:p.Gly309Val
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly309Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

7-77552019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552019
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552019
    reference: chr 7
allele count: 3
allele frequency: 3.356155188615922e-5
allele num: 89388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.941G>A
  hgvsp: ENSP00000400958.2:p.Arg314His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.929G>A
  hgvsp: ENSP00000275575.7:p.Arg310His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.941G>A
  hgvsp: ENSP00000387355.1:p.Arg314His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.929G>A
  hgvsp: ENSP00000408035.2:p.Arg310His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.929G>A
  hgvsp: ENSP00000403620.1:p.Arg310His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.964G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.941G>A
  hgvsp: ENSP00000403042.2:p.Arg314His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.929G>A
  hgvsp: ENSP00000307699.8:p.Arg310His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1742G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.121G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1043G>A
  hgvsp: ENSP00000248550.7:p.Arg348His
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg314His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/7-77552022-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552022
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552022
    reference: chr 7
allele count: 2
allele frequency: 2.257183486445613e-5
allele num: 88606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.932A>C
  hgvsp: ENSP00000307699.8:p.His311Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.932A>C
  hgvsp: ENSP00000275575.7:p.His311Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.967A>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.932A>C
  hgvsp: ENSP00000408035.2:p.His311Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.944A>C
  hgvsp: ENSP00000387355.1:p.His315Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.944A>C
  hgvsp: ENSP00000403042.2:p.His315Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1745A>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1046A>C
  hgvsp: ENSP00000248550.7:p.His349Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.944A>C
  hgvsp: ENSP00000400958.2:p.His315Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.932A>C
  hgvsp: ENSP00000403620.1:p.His311Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.124A>C
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21766
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His315Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-77552022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552022
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552022
    reference: chr 7
allele count: 8
allele frequency: 9.028733945782453e-5
allele num: 88606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.967A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.944A>G
  hgvsp: ENSP00000403042.2:p.His315Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.124A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.932A>G
  hgvsp: ENSP00000275575.7:p.His311Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.944A>G
  hgvsp: ENSP00000387355.1:p.His315Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.932A>G
  hgvsp: ENSP00000408035.2:p.His311Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.932A>G
  hgvsp: ENSP00000307699.8:p.His311Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.944A>G
  hgvsp: ENSP00000400958.2:p.His315Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1046A>G
  hgvsp: ENSP00000248550.7:p.His349Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.932A>G
  hgvsp: ENSP00000403620.1:p.His311Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1745A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21766
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His315Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

7-77552023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552023
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552023
    reference: chr 7
allele count: 1
allele frequency: 1.132785065361698e-5
allele num: 88278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.933T>C
  hgvsp: ENST00000275575.7:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.933T>C
  hgvsp: ENST00000424760.1:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.945T>C
  hgvsp: ENST00000416283.2:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1746T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.125T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1047T>C
  hgvsp: ENST00000248550.7:c.1047T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.945T>C
  hgvsp: ENST00000450574.1:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.968T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.933T>C
  hgvsp: ENST00000415251.2:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.933T>C
  hgvsp: ENST00000307305.8:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.945T>C
  hgvsp: ENST00000422959.2:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His315His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-77552033-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552033
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552033
    reference: chr 7
allele count: 2
allele frequency: 2.354048964218456e-5
allele num: 84960
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.955A>G
  hgvsp: ENSP00000400958.2:p.Thr319Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.955A>G
  hgvsp: ENSP00000387355.1:p.Thr319Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.943A>G
  hgvsp: ENSP00000408035.2:p.Thr315Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.955A>G
  hgvsp: ENSP00000403042.2:p.Thr319Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.943A>G
  hgvsp: ENSP00000403620.1:p.Thr315Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.943A>G
  hgvsp: ENSP00000275575.7:p.Thr315Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.978A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.135A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.943A>G
  hgvsp: ENSP00000307699.8:p.Thr315Ala
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1756A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1057A>G
  hgvsp: ENSP00000248550.7:p.Thr353Ala
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr319Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

7-77552037-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552037
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552037
    reference: chr 7
allele count: 6
allele frequency: 7.180640991885875e-5
allele num: 83558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.139C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.947C>G
  hgvsp: ENSP00000403620.1:p.Ser316Cys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.947C>G
  hgvsp: ENSP00000275575.7:p.Ser316Cys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.959C>G
  hgvsp: ENSP00000400958.2:p.Ser320Cys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.959C>G
  hgvsp: ENSP00000403042.2:p.Ser320Cys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.947C>G
  hgvsp: ENSP00000307699.8:p.Ser316Cys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1760C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.959C>G
  hgvsp: ENSP00000387355.1:p.Ser320Cys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.947C>G
  hgvsp: ENSP00000408035.2:p.Ser316Cys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.982C>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1061C>G
  hgvsp: ENSP00000248550.7:p.Ser354Cys
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10429
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18725
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser320Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

7-77552052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552052
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552052
    reference: chr 7
allele count: 5
allele frequency: 6.495024810994778e-5
allele num: 76982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.974G>A
  hgvsp: ENSP00000387355.1:p.Arg325Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.962G>A
  hgvsp: ENSP00000307699.8:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1775G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.962G>A
  hgvsp: ENSP00000275575.7:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.962G>A
  hgvsp: ENSP00000408035.2:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.974G>A
  hgvsp: ENSP00000403042.2:p.Arg325Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.154G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.997G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.962G>A
  hgvsp: ENSP00000403620.1:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.974G>A
  hgvsp: ENSP00000400958.2:p.Arg325Gln
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1076G>A
  hgvsp: ENSP00000248550.7:p.Arg359Gln
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15141
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12265
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg325Gln
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-77552058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552058
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552058
    reference: chr 7
allele count: 625
allele frequency: 8.290224167661493e-3
allele num: 75390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.980G>A
  hgvsp: ENSP00000400958.2:p.Arg327Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.968G>A
  hgvsp: ENSP00000275575.7:p.Arg323Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.968G>A
  hgvsp: ENSP00000408035.2:p.Arg323Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1781G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.980G>A
  hgvsp: ENSP00000403042.2:p.Arg327Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.968G>A
  hgvsp: ENSP00000403620.1:p.Arg323Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.980G>A
  hgvsp: ENSP00000387355.1:p.Arg327Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.968G>A
  hgvsp: ENSP00000307699.8:p.Arg323Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1003G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1082G>A
  hgvsp: ENSP00000248550.7:p.Arg361Lys
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.160G>A
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 7.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 1.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14289
  bin: 2.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Arg327Lys
num of homozygotes: 5
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

7-77552059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552059
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552059
    reference: chr 7
allele count: 2
allele frequency: 2.674869600106995e-5
allele num: 74770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.981A>G
  hgvsp: ENST00000450574.1:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1782A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1004A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.969A>G
  hgvsp: ENST00000275575.7:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.161A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.969A>G
  hgvsp: ENST00000307305.8:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1083A>G
  hgvsp: ENST00000248550.7:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.969A>G
  hgvsp: ENST00000424760.1:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.981A>G
  hgvsp: ENST00000422959.2:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.969A>G
  hgvsp: ENST00000415251.2:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.981A>G
  hgvsp: ENST00000416283.2:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg327Arg
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

7-77552061-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552061
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552061
    reference: chr 7
allele count: 1
allele frequency: 1.348508549544204e-5
allele num: 74156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.971A>G
  hgvsp: ENSP00000403620.1:p.Lys324Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.971A>G
  hgvsp: ENSP00000408035.2:p.Lys324Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1784A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.983A>G
  hgvsp: ENSP00000400958.2:p.Lys328Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.163A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.971A>G
  hgvsp: ENSP00000307699.8:p.Lys324Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1006A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.971A>G
  hgvsp: ENSP00000275575.7:p.Lys324Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.983A>G
  hgvsp: ENSP00000387355.1:p.Lys328Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1085A>G
  hgvsp: ENSP00000248550.7:p.Lys362Arg
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.983A>G
  hgvsp: ENSP00000403042.2:p.Lys328Arg
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys328Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-77552068-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552068
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552068
    reference: chr 7
allele count: 1
allele frequency: 1.413147928325137e-5
allele num: 70764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.978C>T
  hgvsp: ENST00000275575.7:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1092C>T
  hgvsp: ENST00000248550.7:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.990C>T
  hgvsp: ENST00000450574.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1791C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.978C>T
  hgvsp: ENST00000424760.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1013C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.990C>T
  hgvsp: ENST00000422959.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.978C>T
  hgvsp: ENST00000307305.8:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.170C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.990C>T
  hgvsp: ENST00000416283.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.978C>T
  hgvsp: ENST00000415251.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His330His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/7-77552070-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552070
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552070
    reference: chr 7
allele count: 1
allele frequency: 1.43131136747488e-5
allele num: 69866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.992A>C
  hgvsp: ENSP00000387355.1:p.His331Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.992A>C
  hgvsp: ENSP00000403042.2:p.His331Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.980A>C
  hgvsp: ENSP00000275575.7:p.His327Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1094A>C
  hgvsp: ENSP00000248550.7:p.His365Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.992A>C
  hgvsp: ENSP00000400958.2:p.His331Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.980A>C
  hgvsp: ENSP00000403620.1:p.His327Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.980A>C
  hgvsp: ENSP00000408035.2:p.His327Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.980A>C
  hgvsp: ENSP00000307699.8:p.His327Pro
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1793A>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1015A>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.172A>C
  variant of: http://identifiers.org/hgnc/13411
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His331Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

7-77552109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552109
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552109
    reference: chr 7
allele count: 1
allele frequency: 1.972931381446553e-5
allele num: 50686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+14C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+14C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+14C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.1031C>T
  hgvsp: ENSP00000387355.1:p.Ser344Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+14C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+14C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+14C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.1019C>T
  hgvsp: ENSP00000408035.2:p.Ser340Phe
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+14C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+14C>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.211C>T
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12365
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23069
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser340Phe
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

7-77552119-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552119
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552119
    reference: chr 7
allele count: 1
allele frequency: 2.463782398738544e-5
allele num: 40588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.1029A>G
  hgvsp: ENST00000415251.2:c.1029A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.1041A>G
  hgvsp: ENST00000450574.1:c.1041A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+24A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+24A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+24A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+24A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+24A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+24A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.221A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+24A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+24A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val343Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

7-77552127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552127
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552127
    reference: chr 7
allele count: 22918
allele frequency: 6.091648503535165e-1
allele num: 37622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+32G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+32G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+32G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.1037G>A
  hgvsp: ENSP00000408035.2:p.Arg346His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+32G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.229G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.1049G>A
  hgvsp: ENSP00000387355.1:p.Arg350His
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+32G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+32G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+32G>A
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+32G>A
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 959
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 1341
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 467
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 1532
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 1.25e1
  variant carriers: 5745
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 23575
  bin: 7.5e0
  variant carriers: 17268
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.25e1
  variant carriers: 1202
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 2.5e0
  variant carriers: 5047
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 1504
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 1437
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 688
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 2573
hgvs: p.Arg346His
num of homozygotes: 6759
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-77552127-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552127
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552127
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 37622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.1049G>T
  hgvsp: ENSP00000387355.1:p.Arg350Leu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+32G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+32G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.229G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+32G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+32G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.1037G>T
  hgvsp: ENSP00000408035.2:p.Arg346Leu
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+32G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+32G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+32G>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+32G>T
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23575
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg346Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

7-77552138-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552138
    reference: chr 7
allele count: 1
allele frequency: 4.523249502442555e-5
allele num: 22108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+43A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+43A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+43A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+43A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+43A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.1048A>G
  hgvsp: ENSP00000408035.2:p.Ile350Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+43A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.1060A>G
  hgvsp: ENSP00000387355.1:p.Ile354Val
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.240A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+43A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+43A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33012
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile350Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

7-77552149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552149
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552149
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 18918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.1071A>G
  hgvsp: ENST00000450574.1:c.1071A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+54A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.1059A>G
  hgvsp: ENST00000415251.2:c.1059A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+54A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+54A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.251A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+54A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+54A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+54A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+54A>G
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+54A>G
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: stop retained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31475
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ter353Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-77552150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552150
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552150
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 18720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+55T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.*1T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+55T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.*1T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.252T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+55T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+55T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+55T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+55T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+55T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+55T>C
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

7-77552159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552159
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552159
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 16888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+64T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+64T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.*10T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+64T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.261T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+64T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+64T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+64T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+64T>C
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+64T>C
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28507
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-77552185-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552185
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552185
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 11904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+90A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+90A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+90A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+90A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+90A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+90A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+90A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.*36A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.*36A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.287A>T
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+90A>T
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

7-77552190-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77552190
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 77552189
    reference: chr 7
allele count: 2
allele frequency: 1.977848101265823e-4
allele num: 10112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000408035
  ensembl transcript: ENST00000415251
  gene symbol: PHTF2
  hgvsc: ENST00000415251.2:c.*42delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000387355
  ensembl transcript: ENST00000450574
  gene symbol: PHTF2
  hgvsc: ENST00000450574.1:c.*42delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000454592
  gene symbol: PHTF2
  hgvsc: ENST00000454592.1:n.1040+96delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000400958
  ensembl transcript: ENST00000416283
  gene symbol: PHTF2
  hgvsc: ENST00000416283.2:c.1017+96delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000468351
  gene symbol: PHTF2
  hgvsc: ENST00000468351.1:n.293delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000275575
  ensembl transcript: ENST00000275575
  gene symbol: PHTF2
  hgvsc: ENST00000275575.7:c.1005+96delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl transcript: ENST00000479515
  gene symbol: PHTF2
  hgvsc: ENST00000479515.1:n.1818+96delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000248550
  ensembl transcript: ENST00000248550
  gene symbol: PHTF2
  hgvsc: ENST00000248550.7:c.1119+96delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403042
  ensembl transcript: ENST00000422959
  gene symbol: PHTF2
  hgvsc: ENST00000422959.2:c.1017+96delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000307699
  ensembl transcript: ENST00000307305
  gene symbol: PHTF2
  hgvsc: ENST00000307305.8:c.1005+96delA
  variant of: http://identifiers.org/hgnc/13411
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006576
  ensembl protein: ENSP00000403620
  ensembl transcript: ENST00000424760
  gene symbol: PHTF2
  hgvsc: ENST00000424760.1:c.1005+96delA
  variant of: http://identifiers.org/hgnc/13411
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: TA

GenotypeQuality
all individuals: 48911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.496e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.441414e6

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

GenotypeQuality
all individuals: 185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1693
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4772
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49205
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.899e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.342e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.444939e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.094e0

GenotypeQuality
all individuals: 1432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49203
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.445622e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 817
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0016509079994e-5
allele num: 66630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.351e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

DP
type: SiteQuality
SIO_000300: 1.445966e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

QD
type: SiteQuality
SIO_000300: 1.447e1

GenotypeQuality
all individuals: 4777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.359e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.546e1

FS
type: SiteQuality
SIO_000300: 1.157e0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.446321e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.471e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49276
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 3.138e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

DP
type: SiteQuality
SIO_000300: 1.44658e6

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.398e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 3.278e0

QD
type: SiteQuality
SIO_000300: 5.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.095e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 1.446854e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 330
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.114e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

FS
type: SiteQuality
SIO_000300: 1.282e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
type: SiteQuality
SIO_000300: 1.715e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

DP
type: SiteQuality
SIO_000300: 1.446838e6

GenotypeQuality
all individuals: 1431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 331
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 815
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4786
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

DP
type: SiteQuality
SIO_000300: 1.448308e6

VQSLOD
type: SiteQuality
SIO_000300: -2.144e0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

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

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 289
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 331
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variant carriers: 0

GenotypeQuality
all individuals: 94
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 49462
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.467e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

FS
type: SiteQuality
SIO_000300: 3.527e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

QD
type: SiteQuality
SIO_000300: 1.585e1

DP
type: SiteQuality
SIO_000300: 1.448421e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.645e0

FS
type: SiteQuality
SIO_000300: 1.2902e1

QD
type: SiteQuality
SIO_000300: 1.324e1

DP
type: SiteQuality
SIO_000300: 1.448643e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 330
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1708
bin: 9.75e1
variant carriers: 12

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

South Asian
type: Population
allele count: 12
allele frequency: 7.270964614638875e-4
allele num: 16504
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

FS
type: SiteQuality
SIO_000300: 1.766e0

QD
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SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

DP
type: SiteQuality
SIO_000300: 1.449905e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
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SIO_000300: 8.28e-1

ReadPosRankSum
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SIO_000300: 1.46e0

MQRankSum
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SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.44934e6

MQ
type: SiteQuality
SIO_000300: 5.881e1

QD
type: SiteQuality
SIO_000300: 1.37e1

VQSLOD
type: SiteQuality
SIO_000300: -2.033e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

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

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
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

BaseQRankSum
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SIO_000300: -6.909999999999999e-1

QD
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ReadPosRankSum
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SIO_000300: 5.679999999999999e-1

VQSLOD
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SIO_000300: 2.99e0

MQRankSum
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SIO_000300: 5.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.44981e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737921445950643e-4
allele num: 11508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.38e-1

MQRankSum
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SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
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ReadPosRankSum
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SIO_000300: 1.14e0

BaseQRankSum
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SIO_000300: -1.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 1.449934e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeDepth
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 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
allele num: 9800
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.69e-1

ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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MQ
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FS
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DP
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

African
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allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

Latino
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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
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 18

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

African
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allele count: 55
allele frequency: 5.613390487854664e-3
allele num: 9798
num of homozygotes: 1

Other
type: Population
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DP
type: SiteQuality
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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FS
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.969e1

MQRankSum
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InbreedingCoeff
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SIO_000300: 1.82e-2

DP
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BaseQRankSum
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SIO_000300: 2.79e0

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.50195253829979e-5
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African
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Latino
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Other
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

South Asian
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allele frequency: 4.244996967859309e-4
allele num: 16490
num of homozygotes: 0

East Asian
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allele num: 8600
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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FS
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

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

European (Non-Finnish)
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allele num: 66474
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South Asian
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African
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allele num: 9766
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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FS
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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Other
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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DP
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FS
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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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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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513408801985592e-5
allele num: 66076
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.078e0

BaseQRankSum
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SIO_000300: 3.29e0

VQSLOD
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SIO_000300: -1.07e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

InbreedingCoeff
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SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.370389e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

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

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65856
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.19e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

FS
type: SiteQuality
SIO_000300: 2.759e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 1.386959e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.615739672282483e-5
allele num: 43330
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

FS
type: SiteQuality
SIO_000300: 5.877e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 8.67997e5

GenotypeQuality
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GenotypeQuality
all individuals: 8441
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.964319847085059e-4
allele num: 6278
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 9.32e0

DP
type: SiteQuality
SIO_000300: 8.67997e5

FS
type: SiteQuality
SIO_000300: 5.877e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.226873914398967e-5
allele num: 44906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 1.733e1

MQ
type: SiteQuality
SIO_000300: 5.87e1

VQSLOD
type: SiteQuality
SIO_000300: -9.671e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
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SIO_000300: 3.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 1.786e0

DP
type: SiteQuality
SIO_000300: 9.70648e5

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.91131498470948e-4
allele num: 5232
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: -1.943e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3337e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 1.287332646755922e-4
allele num: 7768
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45790
num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 1

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

East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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African
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South Asian
type: Population
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allele num: 11534
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Other
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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QD
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MQRankSum
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ClippingRankSum
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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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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.005133140840552e-5
allele num: 49872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.140089e6

QD
type: SiteQuality
SIO_000300: 9.3e-1

FS
type: SiteQuality
SIO_000300: 1.269e0

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.938e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.691e0

GenotypeDepth
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1208
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GenotypeQuality
all individuals: 2141
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.979492458133734e-5
allele num: 50518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.03e1

BaseQRankSum
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SIO_000300: 1.18e0

FS
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SIO_000300: 5.224e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

VQSLOD
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SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.013e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.15572e6

GenotypeDepth
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 373
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.802442164397456e-5
allele num: 51266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.487e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.170922e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeDepth
all individuals: 479
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 35594
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 11771
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 223
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variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.719822936428226e-5
allele num: 53766
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.097453906935909e-4
allele num: 9112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13052
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.896e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

DP
type: SiteQuality
SIO_000300: 1.225109e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

GenotypeDepth
all individuals: 1585
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 202
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variant carriers: 0

GenotypeQuality
all individuals: 397
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GenotypeQuality
all individuals: 821
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 222
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 2002
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variant carriers: 23

GenotypeQuality
all individuals: 35487
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GenotypeQuality
all individuals: 299
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GenotypeQuality
all individuals: 733
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 22
allele frequency: 2.688172043010753e-3
allele num: 8184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.077121930202499e-4
allele num: 9284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13460
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 1.247771e6

FS
type: SiteQuality
SIO_000300: 1.225e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.466273095003826e-5
allele num: 54882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

BaseQRankSum
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SIO_000300: -1.043e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.245311e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.678e1

GenotypeDepth
all individuals: 324
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 409
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GenotypeQuality
all individuals: 1501
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.825550403446639e-5
allele num: 54778
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.29e0

DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 768
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GenotypeQuality
all individuals: 477
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GenotypeQuality
all individuals: 407
bin: 8.25e1
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GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54750
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 1.079680414597279e-4
allele num: 9262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.243079e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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FS
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SIO_000300: 1.657e0

MQRankSum
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SIO_000300: -2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54138
num of homozygotes: 0

East Asian
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allele num: 7612
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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DP
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VQSLOD
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QD
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SIO_000300: 1.002e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7330
num of homozygotes: 0

South Asian
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allele frequency: 3.805754300502359e-4
allele num: 13138
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.91519515838664e-5
allele num: 52214
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.029e1

FS
type: SiteQuality
SIO_000300: 8.066000000000001e0

DP
type: SiteQuality
SIO_000300: 1.19259e6

InbreedingCoeff
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SIO_000300: -1.3e-3

MQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.19e0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
all individuals: 1983
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.144950767117014e-4
allele num: 8734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51930
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -9.0e-4

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.19e-1

ReadPosRankSum
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SIO_000300: 2.5e0

BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.504e0

VQSLOD
type: SiteQuality
SIO_000300: -4.529e-1

DP
type: SiteQuality
SIO_000300: 1.184311e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51256
num of homozygotes: 0

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

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

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

Latino
type: Population
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allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13032
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.742e0

InbreedingCoeff
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DP
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MQ
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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VQSLOD
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QD
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SIO_000300: 1.209e1

MQRankSum
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SIO_000300: -5.29e-1

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.475361463558572e-4
allele num: 6778
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.066201082689367e-5
allele num: 48398
num of homozygotes: 0

South Asian
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allele frequency: 7.860399308284861e-5
allele num: 12722
num of homozygotes: 0

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

Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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QD
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MQRankSum
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DP
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MQ
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SIO_000300: 5.894e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 680
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African
type: Population
allele count: 2
allele frequency: 2.577984016499098e-4
allele num: 7758
num of homozygotes: 0

Latino
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East Asian
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South Asian
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MQ
type: SiteQuality
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47906
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 1.031193606599639e-3
allele num: 7758
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 3.393e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
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SIO_000300: 1.289e1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.111446e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2111
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.095908786049631e-5
allele num: 47712
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

VQSLOD
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DP
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MQ
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MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.294e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 1864
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GenotypeQuality
all individuals: 2004
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.642706131078224e-4
allele num: 7568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45712
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 12398
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 3.853e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.073877e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 816
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1966
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GenotypeQuality
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GenotypeQuality
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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: 520
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variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 8.021390374331551e-4
allele num: 7480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.09e1

FS
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

BaseQRankSum
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SIO_000300: -1.237e0

DP
type: SiteQuality
SIO_000300: 1.060037e6

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 199
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GenotypeQuality
all individuals: 2022
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1987
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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: 212
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.764290755116443e-4
allele num: 5668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.869971754163826e-5
allele num: 41068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.162555344718533e-4
allele num: 6324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.453e0

QD
type: SiteQuality
SIO_000300: 9.09e0

BaseQRankSum
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SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

DP
type: SiteQuality
SIO_000300: 9.94811e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

GenotypeDepth
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variant carriers: 5

GenotypeQuality
all individuals: 218
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 428
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GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 11

South Asian
type: Population
allele count: 4
allele frequency: 3.42407122068139e-4
allele num: 11682
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 1.020408163265306e-2
allele num: 588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 496
allele frequency: 1.235490459821651e-2
allele num: 40146
num of homozygotes: 4

African
type: Population
allele count: 11
allele frequency: 1.600232761128892e-3
allele num: 6874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 88
allele frequency: 1.986455981941309e-2
allele num: 4430
num of homozygotes: 1

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

Latino
type: Population
allele count: 20
allele frequency: 3.253090435914118e-3
allele num: 6148
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.7986e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.653e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 280
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 8.588114050154586e-5
allele num: 11644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.517876926175849e-5
allele num: 39716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4384
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

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

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.67273e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1966
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GenotypeQuality
all individuals: 1515
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39344
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African
type: Population
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allele frequency: 1.467997651203758e-4
allele num: 6812
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 6006
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
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MQRankSum
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MQ
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.611e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

DP
type: SiteQuality
SIO_000300: 9.59188e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeDepth
all individuals: 88
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31631
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.5e0
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GenotypeQuality
all individuals: 274
bin: 5.75e1
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GenotypeQuality
all individuals: 1471
bin: 3.25e1
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GenotypeQuality
all individuals: 2747
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

MQRankSum
type: SiteQuality
SIO_000300: -1.164e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

QD
type: SiteQuality
SIO_000300: 7.67e0

DP
type: SiteQuality
SIO_000300: 9.22207e5

VQSLOD
type: SiteQuality
SIO_000300: -1.163e0

GenotypeDepth
all individuals: 438
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32054
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
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variant carriers: 0

GenotypeQuality
all individuals: 114
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12811
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GenotypeQuality
all individuals: 1610
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 3.75e1
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GenotypeQuality
all individuals: 417
bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 612
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4118
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.547508511296812e-4
allele num: 6462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.693e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.902e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 9.09905e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 1.821e0

VQSLOD
type: SiteQuality
SIO_000300: -9.843e-1

QD
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
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variant carriers: 0

GenotypeQuality
all individuals: 14707
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GenotypeQuality
all individuals: 1333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
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GenotypeQuality
all individuals: 3192
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 2170
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
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GenotypeQuality
all individuals: 80
bin: 4.75e1
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GenotypeQuality
all individuals: 1961
bin: 9.75e1
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GenotypeQuality
all individuals: 6530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.849411040110863e-5
allele num: 25978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.121e1

DP
type: SiteQuality
SIO_000300: 7.26401e5

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

FS
type: SiteQuality
SIO_000300: 6.767e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

GenotypeQuality
all individuals: 1150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
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variant carriers: 0

GenotypeQuality
all individuals: 12806
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variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5072
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variant carriers: 0

GenotypeQuality
all individuals: 5992
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6308
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 1480
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variant carriers: 0

GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 17510
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variant carriers: 0

GenotypeQuality
all individuals: 651
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GenotypeQuality
all individuals: 462
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variant carriers: 0

GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 1955
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
all individuals: 701
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.931939238508582e-5
allele num: 20276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.72448e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.567e1

GenotypeQuality
all individuals: 1895
bin: 2.75e1
variant carriers: 1828

GenotypeQuality
all individuals: 954
bin: 6.75e1
variant carriers: 774

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 247

GenotypeQuality
all individuals: 378
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variant carriers: 372

GenotypeQuality
all individuals: 5119
bin: 1.75e1
variant carriers: 4945

GenotypeQuality
all individuals: 809
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variant carriers: 794

GenotypeQuality
all individuals: 662
bin: 5.75e1
variant carriers: 650

GenotypeQuality
all individuals: 500
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variant carriers: 486

GenotypeQuality
all individuals: 6791
bin: 2.5e0
variant carriers: 46

GenotypeQuality
all individuals: 1082
bin: 8.75e1
variant carriers: 1077

GenotypeQuality
all individuals: 1702
bin: 3.25e1
variant carriers: 1651

GenotypeQuality
all individuals: 7479
bin: 7.5e0
variant carriers: 2073

GenotypeQuality
all individuals: 6547
bin: 2.25e1
variant carriers: 3991

GenotypeQuality
all individuals: 13177
bin: 9.75e1
variant carriers: 13137

GenotypeQuality
all individuals: 2246
bin: 6.25e1
variant carriers: 967

GenotypeQuality
all individuals: 595
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variant carriers: 554

GenotypeQuality
all individuals: 719
bin: 3.75e1
variant carriers: 707

GenotypeQuality
all individuals: 443
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variant carriers: 401

GenotypeQuality
all individuals: 1353
bin: 9.25e1
variant carriers: 1339

East Asian
type: Population
allele count: 1358
allele frequency: 7.795637198622273e-1
allele num: 1742
num of homozygotes: 519

African
type: Population
allele count: 1819
allele frequency: 4.678497942386831e-1
allele num: 3888
num of homozygotes: 398

European (Non-Finnish)
type: Population
allele count: 10974
allele frequency: 5.898731455600946e-1
allele num: 18604
num of homozygotes: 3047

Latino
type: Population
allele count: 1347
allele frequency: 6.886503067484663e-1
allele num: 1956
num of homozygotes: 444

European (Finnish)
type: Population
allele count: 1498
allele frequency: 6.226101413133832e-1
allele num: 2406
num of homozygotes: 451

Other
type: Population
allele count: 216
allele frequency: 6.242774566473989e-1
allele num: 346
num of homozygotes: 65

South Asian
type: Population
allele count: 5706
allele frequency: 6.573732718894009e-1
allele num: 8680
num of homozygotes: 1835

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.31012e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 2.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.93e0

GenotypeQuality
all individuals: 7479
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5119
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variant carriers: 0

GenotypeQuality
all individuals: 6791
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variant carriers: 0

GenotypeQuality
all individuals: 500
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GenotypeQuality
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GenotypeQuality
all individuals: 809
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GenotypeQuality
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GenotypeQuality
all individuals: 6547
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GenotypeQuality
all individuals: 13177
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variant carriers: 1

GenotypeQuality
all individuals: 1702
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variant carriers: 0

GenotypeQuality
all individuals: 1895
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variant carriers: 0

GenotypeQuality
all individuals: 443
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GenotypeQuality
all individuals: 719
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
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variant carriers: 0

GenotypeQuality
all individuals: 595
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GenotypeQuality
all individuals: 1082
bin: 8.75e1
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GenotypeQuality
all individuals: 1353
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.31012e5

QD
type: SiteQuality
SIO_000300: 2.299e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
all individuals: 157
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 106
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GenotypeQuality
all individuals: 585
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GenotypeQuality
all individuals: 705
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 1039
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GenotypeQuality
all individuals: 5251
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GenotypeQuality
all individuals: 436
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GenotypeQuality
all individuals: 338
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 8636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 45
bin: 4.25e1
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GenotypeQuality
all individuals: 168
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variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1694
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.605651894669236e-4
allele num: 6228
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.815e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 1.426e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.85845e5

GenotypeQuality
all individuals: 3839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 384
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variant carriers: 1

GenotypeQuality
all individuals: 1294
bin: 2.5e0
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GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 643
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GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 31176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.788e0

DP
type: SiteQuality
SIO_000300: 3.20422e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.186e1

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2082
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 3.14882e5

QD
type: SiteQuality
SIO_000300: 4.9e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.473e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1528
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.480000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.645e0

DP
type: SiteQuality
SIO_000300: 2.68236e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 4.16e0

QD
type: SiteQuality
SIO_000300: 1.776e1

ReadPosRankSum
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SIO_000300: -2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.38e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
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SIO_000300: 1.8015e5

VQSLOD
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SIO_000300: -1.833e0

MQRankSum
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QD
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 9.25e1
variant carriers: 1