7-43918325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918325
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918325
    reference: chr 7
allele count: 1
allele frequency: 8.371563473194253e-6
allele num: 119452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1528G>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.608G>C
  hgvsp: ENSP00000336872.6:p.Gly203Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.737G>C
  hgvsp: ENSP00000396918.1:p.Gly246Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.608G>C
  hgvsp: ENSP00000402803.3:p.Gly203Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.710G>C
  hgvsp: ENSP00000384955.3:p.Gly237Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.608G>C
  hgvsp: ENSP00000223341.7:p.Gly203Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.608G>C
  hgvsp: ENSP00000392136.1:p.Gly203Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2933G>C
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly246Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-43918335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918335
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918335
    reference: chr 7
allele count: 1
allele frequency: 8.377454594196099e-6
allele num: 119368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.598C>T
  hgvsp: ENSP00000392136.1:p.Pro200Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.727C>T
  hgvsp: ENSP00000396918.1:p.Pro243Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.700C>T
  hgvsp: ENSP00000384955.3:p.Pro234Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2923C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.598C>T
  hgvsp: ENSP00000402803.3:p.Pro200Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.598C>T
  hgvsp: ENSP00000336872.6:p.Pro200Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1518C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.598C>T
  hgvsp: ENSP00000223341.7:p.Pro200Ser
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro243Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-43918335-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918335
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918335
    reference: chr 7
allele count: 3
allele frequency: 2.51323637825883e-5
allele num: 119368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.598C>A
  hgvsp: ENSP00000223341.7:p.Pro200Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.700C>A
  hgvsp: ENSP00000384955.3:p.Pro234Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.598C>A
  hgvsp: ENSP00000402803.3:p.Pro200Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1518C>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2923C>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.598C>A
  hgvsp: ENSP00000392136.1:p.Pro200Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.727C>A
  hgvsp: ENSP00000396918.1:p.Pro243Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.598C>A
  hgvsp: ENSP00000336872.6:p.Pro200Thr
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16536
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22282
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro243Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

7-43918340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918340
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918340
    reference: chr 7
allele count: 1
allele frequency: 8.380262805041566e-6
allele num: 119328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.593C>T
  hgvsp: ENSP00000402803.3:p.Ser198Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.593C>T
  hgvsp: ENSP00000336872.6:p.Ser198Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1513C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.593C>T
  hgvsp: ENSP00000223341.7:p.Ser198Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.593C>T
  hgvsp: ENSP00000392136.1:p.Ser198Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.722C>T
  hgvsp: ENSP00000396918.1:p.Ser241Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2918C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.695C>T
  hgvsp: ENSP00000384955.3:p.Ser232Phe
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser241Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-43918343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918343
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918343
    reference: chr 7
allele count: 1
allele frequency: 8.378296859814337e-6
allele num: 119356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.590G>A
  hgvsp: ENSP00000223341.7:p.Trp197Ter
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1510G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.692G>A
  hgvsp: ENSP00000384955.3:p.Trp231Ter
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.590G>A
  hgvsp: ENSP00000392136.1:p.Trp197Ter
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.590G>A
  hgvsp: ENSP00000402803.3:p.Trp197Ter
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.719G>A
  hgvsp: ENSP00000396918.1:p.Trp240Ter
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.590G>A
  hgvsp: ENSP00000336872.6:p.Trp197Ter
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2915G>A
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp240Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

7-43918354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918354
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918354
    reference: chr 7
allele count: 1
allele frequency: 8.388980235562565e-6
allele num: 119204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.579G>A
  hgvsp: ENST00000336086.6:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.579G>A
  hgvsp: ENST00000443736.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.708G>A
  hgvsp: ENST00000453200.1:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1499G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.681G>A
  hgvsp: ENST00000402306.3:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.579G>A
  hgvsp: ENST00000447717.3:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.579G>A
  hgvsp: ENST00000223341.7:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2904G>A
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val236Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

7-43918355-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918355
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918355
    reference: chr 7
allele count: 36
allele frequency: 3.018311087262727e-4
allele num: 119272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.578T>A
  hgvsp: ENSP00000336872.6:p.Val193Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2903T>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.707T>A
  hgvsp: ENSP00000396918.1:p.Val236Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.578T>A
  hgvsp: ENSP00000402803.3:p.Val193Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.680T>A
  hgvsp: ENSP00000384955.3:p.Val227Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.578T>A
  hgvsp: ENSP00000392136.1:p.Val193Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1498T>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.578T>A
  hgvsp: ENSP00000223341.7:p.Val193Glu
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16456
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20348
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 29476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val236Glu
num of homozygotes: 2
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

7-43918363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918363
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918363
    reference: chr 7
allele count: 1
allele frequency: 8.397715821296607e-6
allele num: 119080
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.699G>A
  hgvsp: ENST00000453200.1:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.570G>A
  hgvsp: ENST00000447717.3:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.570G>A
  hgvsp: ENST00000443736.1:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.570G>A
  hgvsp: ENST00000336086.6:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2895G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.672G>A
  hgvsp: ENST00000402306.3:c.672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1490G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.570G>A
  hgvsp: ENST00000223341.7:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg233Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-43918369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918369
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918369
    reference: chr 7
allele count: 4
allele frequency: 3.358465852798442e-5
allele num: 119102
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2889C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.564C>T
  hgvsp: ENST00000447717.3:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.666C>T
  hgvsp: ENST00000402306.3:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.693C>T
  hgvsp: ENST00000453200.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.564C>T
  hgvsp: ENST00000336086.6:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.564C>T
  hgvsp: ENST00000223341.7:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.564C>T
  hgvsp: ENST00000443736.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1484C>T
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18130
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala231Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-43918384-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918384
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918384
    reference: chr 7
allele count: 1
allele frequency: 8.39630562552477e-6
allele num: 119100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.549A>G
  hgvsp: ENST00000443736.1:c.549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.549A>G
  hgvsp: ENST00000223341.7:c.549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.651A>G
  hgvsp: ENST00000402306.3:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2874A>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.549A>G
  hgvsp: ENST00000336086.6:c.549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.549A>G
  hgvsp: ENST00000447717.3:c.549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.678A>G
  hgvsp: ENST00000453200.1:c.678A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1469A>G
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr226Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

7-43918393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918393
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918393
    reference: chr 7
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.540C>T
  hgvsp: ENST00000443736.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.540C>T
  hgvsp: ENST00000447717.3:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2865C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.642C>T
  hgvsp: ENST00000402306.3:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.669C>T
  hgvsp: ENST00000453200.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.540C>T
  hgvsp: ENST00000223341.7:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.540C>T
  hgvsp: ENST00000336086.6:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*526C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1460C>T
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17149
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His223His
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

7-43918394-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918394
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918394
    reference: chr 7
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2864A>C
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.539A>C
  hgvsp: ENSP00000392136.1:p.His180Pro
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.539A>C
  hgvsp: ENSP00000402803.3:p.His180Pro
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.641A>C
  hgvsp: ENSP00000384955.3:p.His214Pro
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.539A>C
  hgvsp: ENSP00000336872.6:p.His180Pro
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.539A>C
  hgvsp: ENSP00000223341.7:p.His180Pro
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*525A>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.668A>C
  hgvsp: ENSP00000396918.1:p.His223Pro
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1459A>C
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His223Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

7-43918399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918399
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918399
    reference: chr 7
allele count: 1
allele frequency: 8.391514500537057e-6
allele num: 119168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.534G>A
  hgvsp: ENST00000336086.6:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.663G>A
  hgvsp: ENST00000453200.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.534G>A
  hgvsp: ENST00000447717.3:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.636G>A
  hgvsp: ENST00000402306.3:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.534G>A
  hgvsp: ENST00000443736.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2859G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*520G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.534G>A
  hgvsp: ENST00000223341.7:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1454G>A
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu221Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-43918402-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918402
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918402
    reference: chr 7
allele count: 2
allele frequency: 1.68044632654433e-5
allele num: 119016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.531G>C
  hgvsp: ENST00000443736.1:c.531G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.531G>C
  hgvsp: ENST00000447717.3:c.531G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.531G>C
  hgvsp: ENST00000223341.7:c.531G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.531G>C
  hgvsp: ENST00000336086.6:c.531G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.633G>C
  hgvsp: ENST00000402306.3:c.633G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2856G>C
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1451G>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.660G>C
  hgvsp: ENST00000453200.1:c.660G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*517G>C
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser220Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-43918402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918402
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918402
    reference: chr 7
allele count: 7
allele frequency: 5.881562142905155e-5
allele num: 119016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.531G>A
  hgvsp: ENST00000443736.1:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1451G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.633G>A
  hgvsp: ENST00000402306.3:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.531G>A
  hgvsp: ENST00000336086.6:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.531G>A
  hgvsp: ENST00000223341.7:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.660G>A
  hgvsp: ENST00000453200.1:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.531G>A
  hgvsp: ENST00000447717.3:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2856G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*517G>A
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20871
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser220Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

7-43918403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918403
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918403
    reference: chr 7
allele count: 4
allele frequency: 3.356943838329585e-5
allele num: 119156
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.659C>T
  hgvsp: ENSP00000396918.1:p.Ser220Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.530C>T
  hgvsp: ENSP00000336872.6:p.Ser177Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*516C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.632C>T
  hgvsp: ENSP00000384955.3:p.Ser211Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.530C>T
  hgvsp: ENSP00000223341.7:p.Ser177Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.530C>T
  hgvsp: ENSP00000402803.3:p.Ser177Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.530C>T
  hgvsp: ENSP00000392136.1:p.Ser177Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1450C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2855C>T
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21135
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser220Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-43918417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918417
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918417
    reference: chr 7
allele count: 4
allele frequency: 3.349803199062055e-5
allele num: 119410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.645C>T
  hgvsp: ENST00000453200.1:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.516C>T
  hgvsp: ENST00000447717.3:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*502C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2841C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.516C>T
  hgvsp: ENST00000443736.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.516C>T
  hgvsp: ENST00000223341.7:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.516C>T
  hgvsp: ENST00000336086.6:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1436C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.618C>T
  hgvsp: ENST00000402306.3:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu215Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-43918428-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918428
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918428
    reference: chr 7
allele count: 1
allele frequency: 8.366520531441385e-6
allele num: 119524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.505G>T
  hgvsp: ENSP00000223341.7:p.Ala169Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2830G>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.505G>T
  hgvsp: ENSP00000392136.1:p.Ala169Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.505G>T
  hgvsp: ENSP00000336872.6:p.Ala169Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.607G>T
  hgvsp: ENSP00000384955.3:p.Ala203Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.634G>T
  hgvsp: ENSP00000396918.1:p.Ala212Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.505G>T
  hgvsp: ENSP00000402803.3:p.Ala169Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*491G>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1425G>T
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala212Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

7-43918440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918440
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918440
    reference: chr 7
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.595C>T
  hgvsp: ENSP00000384955.3:p.Leu199Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.493C>T
  hgvsp: ENSP00000402803.3:p.Leu165Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.493C>T
  hgvsp: ENSP00000223341.7:p.Leu165Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.493C>T
  hgvsp: ENSP00000336872.6:p.Leu165Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.622C>T
  hgvsp: ENSP00000396918.1:p.Leu208Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*479C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.493C>T
  hgvsp: ENSP00000392136.1:p.Leu165Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1413C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2818C>T
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23130
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu208Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

7-43918453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918453
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918453
    reference: chr 7
allele count: 5
allele frequency: 4.164306892760769e-5
allele num: 120068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.582G>A
  hgvsp: ENST00000402306.3:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.609G>A
  hgvsp: ENST00000453200.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.480G>A
  hgvsp: ENST00000447717.3:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2805G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.480G>A
  hgvsp: ENST00000336086.6:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.480G>A
  hgvsp: ENST00000443736.1:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.480G>A
  hgvsp: ENST00000223341.7:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*466G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.480G>A
  hgvsp: ENST00000426198.1:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1400G>A
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20165
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala203Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

7-43918454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918454
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918454
    reference: chr 7
allele count: 2
allele frequency: 1.665556295802798e-5
allele num: 120080
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.608C>T
  hgvsp: ENSP00000396918.1:p.Ala203Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.479C>T
  hgvsp: ENSP00000402803.3:p.Ala160Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2804C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1399C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.479C>T
  hgvsp: ENSP00000336872.6:p.Ala160Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*465C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.479C>T
  hgvsp: ENSP00000223341.7:p.Ala160Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.479C>T
  hgvsp: ENSP00000389990.1:p.Ala160Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.581C>T
  hgvsp: ENSP00000384955.3:p.Ala194Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.479C>T
  hgvsp: ENSP00000392136.1:p.Ala160Val
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20268
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala203Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

7-43918459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918459
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918459
    reference: chr 7
allele count: 2
allele frequency: 1.663616702711695e-5
allele num: 120220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.474A>G
  hgvsp: ENST00000223341.7:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1394A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.474A>G
  hgvsp: ENST00000443736.1:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.474A>G
  hgvsp: ENST00000336086.6:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2799A>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.603A>G
  hgvsp: ENST00000453200.1:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.474A>G
  hgvsp: ENST00000447717.3:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*460A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.576A>G
  hgvsp: ENST00000402306.3:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.474A>G
  hgvsp: ENST00000426198.1:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu201Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-43918474-ACTGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918474
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918470
    reference: chr 7
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.455_458delACAG
  hgvsp: ENSP00000336872.6:p.Asp152ValfsTer7
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.557_560delACAG
  hgvsp: ENSP00000384955.3:p.Asp186ValfsTer7
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.455_458delACAG
  hgvsp: ENSP00000389990.1:p.Asp152ValfsTer7
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*441_*444delACAG
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.584_587delACAG
  hgvsp: ENSP00000396918.1:p.Asp195ValfsTer7
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1375_1378delACAG
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.455_458delACAG
  hgvsp: ENSP00000223341.7:p.Asp152ValfsTer7
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.455_458delACAG
  hgvsp: ENSP00000402803.3:p.Asp152ValfsTer7
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.455_458delACAG
  hgvsp: ENSP00000392136.1:p.Asp152ValfsTer7
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2780_175+2783delACAG
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp195ValfsTer7
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: ACTGT
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

7-43918476-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918476
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918476
    reference: chr 7
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.457A>C
  hgvsp: ENSP00000402803.3:p.Ser153Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*443A>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.457A>C
  hgvsp: ENSP00000336872.6:p.Ser153Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.457A>C
  hgvsp: ENSP00000392136.1:p.Ser153Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.457A>C
  hgvsp: ENSP00000389990.1:p.Ser153Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2782A>C
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.457A>C
  hgvsp: ENSP00000223341.7:p.Ser153Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.586A>C
  hgvsp: ENSP00000396918.1:p.Ser196Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1377A>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.559A>C
  hgvsp: ENSP00000384955.3:p.Ser187Arg
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser196Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-43918486-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918486
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918486
    reference: chr 7
allele count: 4
allele frequency: 3.317684919463199e-5
allele num: 120566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.447C>G
  hgvsp: ENST00000426198.1:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.447C>G
  hgvsp: ENST00000447717.3:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2772C>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.447C>G
  hgvsp: ENST00000336086.6:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.447C>G
  hgvsp: ENST00000443736.1:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.576C>G
  hgvsp: ENST00000453200.1:c.576C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.447C>G
  hgvsp: ENST00000223341.7:c.447C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.549C>G
  hgvsp: ENST00000402306.3:c.549C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*433C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1367C>G
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu192Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-43918492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918492
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918492
    reference: chr 7
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.570G>A
  hgvsp: ENST00000453200.1:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.543G>A
  hgvsp: ENST00000402306.3:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.441G>A
  hgvsp: ENST00000223341.7:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.441G>A
  hgvsp: ENST00000447717.3:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*427G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.441G>A
  hgvsp: ENST00000336086.6:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.441G>A
  hgvsp: ENST00000426198.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.441G>A
  hgvsp: ENST00000443736.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2766G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1361G>A
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu190Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-43918495-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918495
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918495
    reference: chr 7
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2763C>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.438C>G
  hgvsp: ENST00000443736.1:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.438C>G
  hgvsp: ENST00000336086.6:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.540C>G
  hgvsp: ENST00000402306.3:c.540C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1358C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.438C>G
  hgvsp: ENST00000447717.3:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.438C>G
  hgvsp: ENST00000426198.1:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.438C>G
  hgvsp: ENST00000223341.7:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.567C>G
  hgvsp: ENST00000453200.1:c.567C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*424C>G
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala189Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

7-43918499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918499
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918499
    reference: chr 7
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.563G>A
  hgvsp: ENSP00000396918.1:p.Cys188Tyr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.536G>A
  hgvsp: ENSP00000384955.3:p.Cys179Tyr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2759G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1354G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.434G>A
  hgvsp: ENSP00000336872.6:p.Cys145Tyr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.434G>A
  hgvsp: ENSP00000389990.1:p.Cys145Tyr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.434G>A
  hgvsp: ENSP00000402803.3:p.Cys145Tyr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.434G>A
  hgvsp: ENSP00000392136.1:p.Cys145Tyr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*420G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.434G>A
  hgvsp: ENSP00000223341.7:p.Cys145Tyr
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys188Tyr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

7-43918513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918513
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918513
    reference: chr 7
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.420C>T
  hgvsp: ENST00000426198.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2745C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.420C>T
  hgvsp: ENST00000223341.7:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.549C>T
  hgvsp: ENST00000453200.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.420C>T
  hgvsp: ENST00000336086.6:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.420C>T
  hgvsp: ENST00000447717.3:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1340C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.522C>T
  hgvsp: ENST00000402306.3:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.420C>T
  hgvsp: ENST00000443736.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*406C>T
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro183Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

7-43918523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918523
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918523
    reference: chr 7
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.410C>T
  hgvsp: ENSP00000336872.6:p.Pro137Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.410C>T
  hgvsp: ENSP00000389990.1:p.Pro137Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.410C>T
  hgvsp: ENSP00000402803.3:p.Pro137Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.410C>T
  hgvsp: ENSP00000223341.7:p.Pro137Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.539C>T
  hgvsp: ENSP00000396918.1:p.Pro180Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2735C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1330C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.512C>T
  hgvsp: ENSP00000384955.3:p.Pro171Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.410C>T
  hgvsp: ENSP00000392136.1:p.Pro137Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*396C>T
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro180Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-43918525-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918525
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918525
    reference: chr 7
allele count: 5
allele frequency: 4.14112970018221e-5
allele num: 120740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.510G>T
  hgvsp: ENST00000402306.3:c.510G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.408G>T
  hgvsp: ENST00000336086.6:c.408G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1328G>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.408G>T
  hgvsp: ENST00000443736.1:c.408G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.408G>T
  hgvsp: ENST00000447717.3:c.408G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*394G>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.408G>T
  hgvsp: ENST00000223341.7:c.408G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.408G>T
  hgvsp: ENST00000426198.1:c.408G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.537G>T
  hgvsp: ENST00000453200.1:c.537G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2733G>T
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr179Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-43918525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918525
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918525
    reference: chr 7
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*394G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.537G>A
  hgvsp: ENST00000453200.1:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.408G>A
  hgvsp: ENST00000223341.7:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.408G>A
  hgvsp: ENST00000447717.3:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.408G>A
  hgvsp: ENST00000443736.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1328G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.408G>A
  hgvsp: ENST00000336086.6:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.510G>A
  hgvsp: ENST00000402306.3:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.408G>A
  hgvsp: ENST00000426198.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2733G>A
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr179Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-43918526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918526
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918526
    reference: chr 7
allele count: 10
allele frequency: 8.282396594278521e-5
allele num: 120738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.407C>T
  hgvsp: ENSP00000392136.1:p.Thr136Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.509C>T
  hgvsp: ENSP00000384955.3:p.Thr170Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.407C>T
  hgvsp: ENSP00000336872.6:p.Thr136Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.407C>T
  hgvsp: ENSP00000402803.3:p.Thr136Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.536C>T
  hgvsp: ENSP00000396918.1:p.Thr179Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.407C>T
  hgvsp: ENSP00000223341.7:p.Thr136Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.407C>T
  hgvsp: ENSP00000389990.1:p.Thr136Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2732C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1327C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*393C>T
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr179Met
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-43918526-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918526
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918526
    reference: chr 7
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2732C>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*393C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.536C>G
  hgvsp: ENSP00000396918.1:p.Thr179Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.407C>G
  hgvsp: ENSP00000389990.1:p.Thr136Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.407C>G
  hgvsp: ENSP00000223341.7:p.Thr136Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.407C>G
  hgvsp: ENSP00000402803.3:p.Thr136Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.407C>G
  hgvsp: ENSP00000392136.1:p.Thr136Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1327C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.509C>G
  hgvsp: ENSP00000384955.3:p.Thr170Arg
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.407C>G
  hgvsp: ENSP00000336872.6:p.Thr136Arg
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr179Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

7-43918531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918531
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918531
    reference: chr 7
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2727T>C
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.402T>C
  hgvsp: ENST00000223341.7:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1322T>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.402T>C
  hgvsp: ENST00000447717.3:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.531T>C
  hgvsp: ENST00000453200.1:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*388T>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.402T>C
  hgvsp: ENST00000426198.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.402T>C
  hgvsp: ENST00000443736.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.504T>C
  hgvsp: ENST00000402306.3:c.504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.402T>C
  hgvsp: ENST00000336086.6:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37844
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro177Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-43918536-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918536
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918536
    reference: chr 7
allele count: 3
allele frequency: 2.484513201046808e-5
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.397A>G
  hgvsp: ENSP00000402803.3:p.Thr133Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2722A>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.397A>G
  hgvsp: ENSP00000336872.6:p.Thr133Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*383A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.397A>G
  hgvsp: ENSP00000392136.1:p.Thr133Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.397A>G
  hgvsp: ENSP00000389990.1:p.Thr133Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.499A>G
  hgvsp: ENSP00000384955.3:p.Thr167Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.397A>G
  hgvsp: ENSP00000223341.7:p.Thr133Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.526A>G
  hgvsp: ENSP00000396918.1:p.Thr176Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1317A>G
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr176Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

7-43918539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918539
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918539
    reference: chr 7
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.523C>T
  hgvsp: ENSP00000396918.1:p.Pro175Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.394C>T
  hgvsp: ENSP00000402803.3:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.394C>T
  hgvsp: ENSP00000336872.6:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.496C>T
  hgvsp: ENSP00000384955.3:p.Pro166Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1314C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.394C>T
  hgvsp: ENSP00000392136.1:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.394C>T
  hgvsp: ENSP00000389990.1:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*380C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2719C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.394C>T
  hgvsp: ENSP00000223341.7:p.Pro132Ser
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro175Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

7-43918542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918542
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918542
    reference: chr 7
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*377C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.391C>T
  hgvsp: ENST00000336086.6:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2716C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.391C>T
  hgvsp: ENST00000223341.7:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.520C>T
  hgvsp: ENST00000453200.1:c.520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.391C>T
  hgvsp: ENST00000443736.1:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.391C>T
  hgvsp: ENST00000426198.1:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.391C>T
  hgvsp: ENST00000447717.3:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.493C>T
  hgvsp: ENST00000402306.3:c.493C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1311C>T
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu174Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-43918563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918563
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918563
    reference: chr 7
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.472G>A
  hgvsp: ENSP00000384955.3:p.Asp158Asn
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.370G>A
  hgvsp: ENSP00000336872.6:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.370G>A
  hgvsp: ENSP00000402803.3:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2695G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.370G>A
  hgvsp: ENSP00000389990.1:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.370G>A
  hgvsp: ENSP00000392136.1:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.499G>A
  hgvsp: ENSP00000396918.1:p.Asp167Asn
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1290G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*356G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.535G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.370G>A
  hgvsp: ENSP00000223341.7:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp167Asn
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-43918564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918564
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918564
    reference: chr 7
allele count: 138
allele frequency: 1.142724653042297e-3
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.369C>T
  hgvsp: ENST00000223341.7:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.369C>T
  hgvsp: ENST00000447717.3:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*355C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.369C>T
  hgvsp: ENST00000426198.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.471C>T
  hgvsp: ENST00000402306.3:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.369C>T
  hgvsp: ENST00000336086.6:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2694C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.534C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.498C>T
  hgvsp: ENST00000453200.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1289C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.369C>T
  hgvsp: ENST00000443736.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
hgvs: p.Ala166Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

7-43918565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918565
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918565
    reference: chr 7
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.497C>T
  hgvsp: ENSP00000396918.1:p.Ala166Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.368C>T
  hgvsp: ENSP00000392136.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1288C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*354C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.368C>T
  hgvsp: ENSP00000223341.7:p.Ala123Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.368C>T
  hgvsp: ENSP00000402803.3:p.Ala123Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.470C>T
  hgvsp: ENSP00000384955.3:p.Ala157Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.368C>T
  hgvsp: ENSP00000336872.6:p.Ala123Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.533C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.368C>T
  hgvsp: ENSP00000389990.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2693C>T
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala166Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

7-43918569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918569
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918569
    reference: chr 7
allele count: 19
allele frequency: 1.5732644409115e-4
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.364G>A
  hgvsp: ENSP00000336872.6:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.364G>A
  hgvsp: ENSP00000392963.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.364G>A
  hgvsp: ENSP00000389990.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.529G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.493G>A
  hgvsp: ENSP00000396918.1:p.Ala165Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.364G>A
  hgvsp: ENSP00000392136.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1284G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.466G>A
  hgvsp: ENSP00000384955.3:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*350G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.364G>A
  hgvsp: ENSP00000402803.3:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.364G>A
  hgvsp: ENSP00000223341.7:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2689G>A
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala165Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/7-43918570-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918570
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918570
    reference: chr 7
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.363T>G
  hgvsp: ENST00000455877.1:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*349T>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.363T>G
  hgvsp: ENST00000447717.3:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2688T>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.492T>G
  hgvsp: ENST00000453200.1:c.492T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.363T>G
  hgvsp: ENST00000443736.1:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1283T>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.528T>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.465T>G
  hgvsp: ENST00000402306.3:c.465T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.363T>G
  hgvsp: ENST00000426198.1:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.363T>G
  hgvsp: ENST00000336086.6:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.363T>G
  hgvsp: ENST00000223341.7:c.363T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu164Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-43918572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918572
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918572
    reference: chr 7
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2686C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.361C>T
  hgvsp: ENSP00000336872.6:p.Leu121Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*347C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.490C>T
  hgvsp: ENSP00000396918.1:p.Leu164Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.463C>T
  hgvsp: ENSP00000384955.3:p.Leu155Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.361C>T
  hgvsp: ENSP00000392136.1:p.Leu121Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.361C>T
  hgvsp: ENSP00000402803.3:p.Leu121Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.361C>T
  hgvsp: ENSP00000392963.1:p.Leu121Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1281C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.361C>T
  hgvsp: ENSP00000389990.1:p.Leu121Phe
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.526C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.361C>T
  hgvsp: ENSP00000223341.7:p.Leu121Phe
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu164Phe
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

7-43918592-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918592
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918593
    reference: chr 7
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*326dupT
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.340dupT
  hgvsp: ENSP00000389990.1:p.Tyr114LeufsTer6
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.340dupT
  hgvsp: ENSP00000392963.1:p.Tyr114LeufsTer6
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.442dupT
  hgvsp: ENSP00000384955.3:p.Tyr148LeufsTer6
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.340dupT
  hgvsp: ENSP00000392136.1:p.Tyr114LeufsTer6
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.469dupT
  hgvsp: ENSP00000396918.1:p.Tyr157LeufsTer6
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.340dupT
  hgvsp: ENSP00000223341.7:p.Tyr114LeufsTer6
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.340dupT
  hgvsp: ENSP00000336872.6:p.Tyr114LeufsTer6
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1260dupT
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.340dupT
  hgvsp: ENSP00000402803.3:p.Tyr114LeufsTer6
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.505dupT
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2665dupT
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr157LeufsTer6
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

7-43918594-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918594
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918594
    reference: chr 7
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.339C>G
  hgvsp: ENSP00000389990.1:p.Ile113Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.504C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.339C>G
  hgvsp: ENSP00000223341.7:p.Ile113Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.339C>G
  hgvsp: ENSP00000402803.3:p.Ile113Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.441C>G
  hgvsp: ENSP00000384955.3:p.Ile147Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.468C>G
  hgvsp: ENSP00000396918.1:p.Ile156Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1259C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.339C>G
  hgvsp: ENSP00000336872.6:p.Ile113Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.339C>G
  hgvsp: ENSP00000392963.1:p.Ile113Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.339C>G
  hgvsp: ENSP00000392136.1:p.Ile113Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*325C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2664C>G
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile156Met
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-43918600-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918600
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918600
    reference: chr 7
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.498G>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.333G>T
  hgvsp: ENSP00000402803.3:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.333G>T
  hgvsp: ENSP00000223341.7:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1253G>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2658G>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.333G>T
  hgvsp: ENSP00000392963.1:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.333G>T
  hgvsp: ENSP00000336872.6:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.462G>T
  hgvsp: ENSP00000396918.1:p.Glu154Asp
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*319G>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.435G>T
  hgvsp: ENSP00000384955.3:p.Glu145Asp
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.333G>T
  hgvsp: ENSP00000392136.1:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.333G>T
  hgvsp: ENSP00000389990.1:p.Glu111Asp
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu154Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

7-43918600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918600
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918600
    reference: chr 7
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.333G>A
  hgvsp: ENST00000447717.3:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.333G>A
  hgvsp: ENST00000443736.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.435G>A
  hgvsp: ENST00000402306.3:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.498G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.333G>A
  hgvsp: ENST00000426198.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.333G>A
  hgvsp: ENST00000455877.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1253G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.462G>A
  hgvsp: ENST00000453200.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*319G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2658G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.333G>A
  hgvsp: ENST00000336086.6:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.333G>A
  hgvsp: ENST00000223341.7:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu154Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-43918610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918610
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918610
    reference: chr 7
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.323T>C
  hgvsp: ENSP00000392136.1:p.Met108Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.452T>C
  hgvsp: ENSP00000396918.1:p.Met151Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.323T>C
  hgvsp: ENSP00000389990.1:p.Met108Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.323T>C
  hgvsp: ENSP00000392963.1:p.Met108Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.425T>C
  hgvsp: ENSP00000384955.3:p.Met142Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.323T>C
  hgvsp: ENSP00000402803.3:p.Met108Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1243T>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.323T>C
  hgvsp: ENSP00000336872.6:p.Met108Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.323T>C
  hgvsp: ENSP00000223341.7:p.Met108Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*309T>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.488T>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2648T>C
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met151Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-43918628-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918628
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918628
    reference: chr 7
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.305T>A
  hgvsp: ENSP00000223341.7:p.Val102Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.305T>A
  hgvsp: ENSP00000389990.1:p.Val102Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1225T>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.305T>A
  hgvsp: ENSP00000402803.3:p.Val102Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.305T>A
  hgvsp: ENSP00000392963.1:p.Val102Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.305T>A
  hgvsp: ENSP00000392136.1:p.Val102Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.434T>A
  hgvsp: ENSP00000396918.1:p.Val145Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.407T>A
  hgvsp: ENSP00000384955.3:p.Val136Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.305T>A
  hgvsp: ENSP00000336872.6:p.Val102Glu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2630T>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.470T>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*291T>A
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val145Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-43918629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918629
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918629
    reference: chr 7
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.304G>C
  hgvsp: ENSP00000223341.7:p.Val102Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2629G>C
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.433G>C
  hgvsp: ENSP00000396918.1:p.Val145Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.304G>C
  hgvsp: ENSP00000392136.1:p.Val102Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.304G>C
  hgvsp: ENSP00000402803.3:p.Val102Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.406G>C
  hgvsp: ENSP00000384955.3:p.Val136Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1224G>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.304G>C
  hgvsp: ENSP00000389990.1:p.Val102Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*290G>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.304G>C
  hgvsp: ENSP00000336872.6:p.Val102Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.304G>C
  hgvsp: ENSP00000392963.1:p.Val102Leu
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.469G>C
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val145Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-43918636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918636
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918636
    reference: chr 7
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.462C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.297C>T
  hgvsp: ENST00000443736.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.297C>T
  hgvsp: ENST00000455877.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2622C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.297C>T
  hgvsp: ENST00000447717.3:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.297C>T
  hgvsp: ENST00000223341.7:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*283C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.399C>T
  hgvsp: ENST00000402306.3:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.297C>T
  hgvsp: ENST00000336086.6:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.426C>T
  hgvsp: ENST00000453200.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1217C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.297C>T
  hgvsp: ENST00000426198.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala142Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

7-43918638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918638
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918638
    reference: chr 7
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.295G>A
  hgvsp: ENSP00000223341.7:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2620G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.295G>A
  hgvsp: ENSP00000389990.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.397G>A
  hgvsp: ENSP00000384955.3:p.Ala133Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.295G>A
  hgvsp: ENSP00000336872.6:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.295G>A
  hgvsp: ENSP00000402803.3:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.424G>A
  hgvsp: ENSP00000396918.1:p.Ala142Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.295G>A
  hgvsp: ENSP00000392963.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*281G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1215G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.295G>A
  hgvsp: ENSP00000392136.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.460G>A
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala142Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

7-43918639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918639
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918639
    reference: chr 7
allele count: 9
allele frequency: 7.452552085058461e-5
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.294C>T
  hgvsp: ENST00000447717.3:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1214C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.294C>T
  hgvsp: ENST00000443736.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.396C>T
  hgvsp: ENST00000402306.3:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.294C>T
  hgvsp: ENST00000336086.6:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.294C>T
  hgvsp: ENST00000426198.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.423C>T
  hgvsp: ENST00000453200.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.294C>T
  hgvsp: ENST00000223341.7:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2619C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.294C>T
  hgvsp: ENST00000455877.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.459C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*280C>T
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp141Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-43918650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918650
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918650
    reference: chr 7
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.448G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.283G>A
  hgvsp: ENSP00000402803.3:p.Val95Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.385G>A
  hgvsp: ENSP00000384955.3:p.Val129Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2608G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.396G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1203G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.412G>A
  hgvsp: ENSP00000396918.1:p.Val138Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.283G>A
  hgvsp: ENSP00000336872.6:p.Val95Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.283G>A
  hgvsp: ENSP00000389990.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*269G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.283G>A
  hgvsp: ENSP00000392963.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.283G>A
  hgvsp: ENSP00000223341.7:p.Val95Met
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.283G>A
  hgvsp: ENSP00000392136.1:p.Val95Met
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val138Met
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-43918651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918651
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918651
    reference: chr 7
allele count: 2
allele frequency: 1.656177542232527e-5
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.282C>T
  hgvsp: ENST00000443736.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1202C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.384C>T
  hgvsp: ENST00000402306.3:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.282C>T
  hgvsp: ENST00000223341.7:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.447C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2607C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.282C>T
  hgvsp: ENST00000447717.3:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*268C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.282C>T
  hgvsp: ENST00000336086.6:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.282C>T
  hgvsp: ENST00000426198.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.411C>T
  hgvsp: ENST00000453200.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.395C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.282C>T
  hgvsp: ENST00000455877.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp137Asp
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

7-43918662-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918662
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918662
    reference: chr 7
allele count: 2
allele frequency: 1.656397005234214e-5
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.400A>G
  hgvsp: ENSP00000396918.1:p.Met134Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1191A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.271A>G
  hgvsp: ENSP00000389990.1:p.Met91Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.384A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.271A>G
  hgvsp: ENSP00000392136.1:p.Met91Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2596A>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.271A>G
  hgvsp: ENSP00000336872.6:p.Met91Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.373A>G
  hgvsp: ENSP00000384955.3:p.Met125Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*257A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.271A>G
  hgvsp: ENSP00000392963.1:p.Met91Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.271A>G
  hgvsp: ENSP00000402803.3:p.Met91Val
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.436A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.271A>G
  hgvsp: ENSP00000223341.7:p.Met91Val
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met134Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-43918665-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918665
    reference: chr 7
allele count: 6
allele frequency: 4.969273326597208e-5
allele num: 120742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.268A>G
  hgvsp: ENSP00000389990.1:p.Thr90Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.381A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.397A>G
  hgvsp: ENSP00000396918.1:p.Thr133Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.268A>G
  hgvsp: ENSP00000223341.7:p.Thr90Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1188A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.268A>G
  hgvsp: ENSP00000336872.6:p.Thr90Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.370A>G
  hgvsp: ENSP00000384955.3:p.Thr124Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*254A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.433A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.268A>G
  hgvsp: ENSP00000392963.1:p.Thr90Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.268A>G
  hgvsp: ENSP00000402803.3:p.Thr90Ala
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2593A>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.268A>G
  hgvsp: ENSP00000392136.1:p.Thr90Ala
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr133Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

7-43918670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918670
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918670
    reference: chr 7
allele count: 6
allele frequency: 4.969273326597208e-5
allele num: 120742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.263A>G
  hgvsp: ENSP00000223341.7:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.428A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.263A>G
  hgvsp: ENSP00000389990.1:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.263A>G
  hgvsp: ENSP00000336872.6:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.392A>G
  hgvsp: ENSP00000396918.1:p.Asn131Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.263A>G
  hgvsp: ENSP00000392136.1:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2588A>G
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.263A>G
  hgvsp: ENSP00000392963.1:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.376A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*249A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1183A>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.365A>G
  hgvsp: ENSP00000384955.3:p.Asn122Ser
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.263A>G
  hgvsp: ENSP00000402803.3:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn131Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

7-43918676-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918676
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918676
    reference: chr 7
allele count: 3
allele frequency: 2.484760137821362e-5
allele num: 120736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.257C>G
  hgvsp: ENSP00000389990.1:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.257C>G
  hgvsp: ENSP00000392136.1:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1177C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.257C>G
  hgvsp: ENSP00000223341.7:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.370C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.386C>G
  hgvsp: ENSP00000396918.1:p.Ala129Gly
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.257C>G
  hgvsp: ENSP00000336872.6:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.359C>G
  hgvsp: ENSP00000384955.3:p.Ala120Gly
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.257C>G
  hgvsp: ENSP00000402803.3:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*243C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.257C>G
  hgvsp: ENSP00000392963.1:p.Ala86Gly
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.422C>G
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2582C>G
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala129Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-43918683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918683
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918683
    reference: chr 7
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.415G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.250G>A
  hgvsp: ENSP00000392963.1:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1170G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*236G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.250G>A
  hgvsp: ENSP00000402803.3:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.379G>A
  hgvsp: ENSP00000396918.1:p.Ala127Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.250G>A
  hgvsp: ENSP00000389990.1:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.250G>A
  hgvsp: ENSP00000392136.1:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.363G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.352G>A
  hgvsp: ENSP00000384955.3:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.250G>A
  hgvsp: ENSP00000336872.6:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2575G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.250G>A
  hgvsp: ENSP00000223341.7:p.Ala84Thr
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala127Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-43918699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918699
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918699
    reference: chr 7
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.347G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.399G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.234G>A
  hgvsp: ENST00000336086.6:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.234G>A
  hgvsp: ENST00000443736.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.234G>A
  hgvsp: ENST00000455877.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2559G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1154G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.363G>A
  hgvsp: ENST00000453200.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.234G>A
  hgvsp: ENST00000426198.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.336G>A
  hgvsp: ENST00000402306.3:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.234G>A
  hgvsp: ENST00000223341.7:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.234G>A
  hgvsp: ENST00000447717.3:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys121Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-43918720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918720
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918720
    reference: chr 7
allele count: 6
allele frequency: 4.99001996007984e-5
allele num: 120240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.213G>A
  hgvsp: ENST00000443736.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*199G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.213G>A
  hgvsp: ENST00000426198.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.326G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.342G>A
  hgvsp: ENST00000453200.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.315G>A
  hgvsp: ENST00000402306.3:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.213G>A
  hgvsp: ENST00000223341.7:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1133G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2538G>A
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.213G>A
  hgvsp: ENST00000336086.6:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.378G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.213G>A
  hgvsp: ENST00000455877.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.213G>A
  hgvsp: ENST00000447717.3:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu114Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

7-43918731-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918731
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918731
    reference: chr 7
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.331C>A
  hgvsp: ENSP00000396918.1:p.Pro111Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.202C>A
  hgvsp: ENSP00000389990.1:p.Pro68Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.315C>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.367C>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*188C>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.202C>A
  hgvsp: ENSP00000336872.6:p.Pro68Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.202C>A
  hgvsp: ENSP00000392963.1:p.Pro68Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1122C>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.304C>A
  hgvsp: ENSP00000384955.3:p.Pro102Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.202C>A
  hgvsp: ENSP00000223341.7:p.Pro68Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.202C>A
  hgvsp: ENSP00000402803.3:p.Pro68Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.202C>A
  hgvsp: ENSP00000392136.1:p.Pro68Thr
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2527C>A
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro111Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

7-43918756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918756
    reference: chr 7
allele count: 1
allele frequency: 8.375069094320028e-6
allele num: 119402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.177T>C
  hgvsp: ENST00000443736.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.177T>C
  hgvsp: ENST00000223341.7:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.279T>C
  hgvsp: ENST00000402306.3:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1097T>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.177T>C
  hgvsp: ENST00000336086.6:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.306T>C
  hgvsp: ENST00000453200.1:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.177T>C
  hgvsp: ENST00000426198.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.177T>C
  hgvsp: ENST00000447717.3:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.177T>C
  hgvsp: ENST00000455877.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.290T>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.342T>C
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2502T>C
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*163T>C
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser102Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

7-43918771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918771
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918771
    reference: chr 7
allele count: 1
allele frequency: 8.393768466290626e-6
allele num: 119136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*148G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.162G>A
  hgvsp: ENST00000426198.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.291G>A
  hgvsp: ENST00000453200.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.162G>A
  hgvsp: ENST00000443736.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.162G>A
  hgvsp: ENST00000223341.7:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1082G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.162G>A
  hgvsp: ENST00000447717.3:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.162G>A
  hgvsp: ENST00000336086.6:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.327G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.264G>A
  hgvsp: ENST00000402306.3:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.275G>A
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.162G>A
  hgvsp: ENST00000455877.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2487G>A
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln97Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

7-43918780-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918780
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918780
    reference: chr 7
allele count: 1
allele frequency: 8.410287463625507e-6
allele num: 118902
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2478C>T
  variant of: http://identifiers.org/hgnc/49188
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.153C>T
  hgvsp: ENST00000443736.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.153C>T
  hgvsp: ENST00000426198.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1073C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.266C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.255C>T
  hgvsp: ENST00000402306.3:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.318C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.153C>T
  hgvsp: ENST00000447717.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.153C>T
  hgvsp: ENST00000223341.7:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.153C>T
  hgvsp: ENST00000336086.6:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.282C>T
  hgvsp: ENST00000453200.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*139C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.153C>T
  hgvsp: ENST00000455877.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp94Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

7-43918792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43918792
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 43918792
    reference: chr 7
allele count: 1
allele frequency: 8.428434165500733e-6
allele num: 118646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000474376
  gene symbol: URGCP
  hgvsc: ENST00000474376.1:n.254C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000336872
  ensembl transcript: ENST00000336086
  gene symbol: URGCP
  hgvsc: ENST00000336086.6:c.141C>T
  hgvsp: ENST00000336086.6:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000389990
  ensembl transcript: ENST00000426198
  gene symbol: URGCP
  hgvsc: ENST00000426198.1:c.141C>T
  hgvsp: ENST00000426198.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000402803
  ensembl transcript: ENST00000447717
  gene symbol: URGCP
  hgvsc: ENST00000447717.3:c.141C>T
  hgvsp: ENST00000447717.3:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000412599
  ensembl transcript: ENST00000439702
  gene symbol: URGCP
  hgvsc: ENST00000439702.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000384955
  ensembl transcript: ENST00000402306
  gene symbol: URGCP
  hgvsc: ENST00000402306.3:c.243C>T
  hgvsp: ENST00000402306.3:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392963
  ensembl transcript: ENST00000455877
  gene symbol: URGCP
  hgvsc: ENST00000455877.1:c.141C>T
  hgvsp: ENST00000455877.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000396918
  ensembl transcript: ENST00000453200
  gene symbol: URGCP
  hgvsc: ENST00000453200.1:c.270C>T
  hgvsp: ENST00000453200.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000223341
  ensembl transcript: ENST00000223341
  gene symbol: URGCP
  hgvsc: ENST00000223341.7:c.141C>T
  hgvsp: ENST00000223341.7:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000467410
  gene symbol: URGCP
  hgvsc: ENST00000467410.1:n.306C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106608
  ensembl protein: ENSP00000392136
  ensembl transcript: ENST00000443736
  gene symbol: URGCP
  hgvsc: ENST00000443736.1:c.141C>T
  hgvsp: ENST00000443736.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106608
  ensembl transcript: ENST00000497914
  gene symbol: URGCP
  hgvsc: ENST00000497914.1:n.1061C>T
  variant of: http://identifiers.org/hgnc/30890
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270617
  ensembl protein: ENSP00000473871
  ensembl transcript: ENST00000603700
  gene symbol: URGCP-MRPS24
  hgvsc: ENST00000603700.1:c.175+2466C>T
  variant of: http://identifiers.org/hgnc/49188
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu90Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

GenotypeQuality
all individuals: 2995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32270
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1713
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.178e1

VQSLOD
type: SiteQuality
SIO_000300: -6.497000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.602088e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.770391159445712e-5
allele num: 11402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

DP
type: SiteQuality
SIO_000300: 1.583601e6

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 839
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 815
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31830
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.541601065762383e-5
allele num: 66056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

DP
type: SiteQuality
SIO_000300: 1.583601e6

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.421e1

GenotypeQuality
all individuals: 1284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 883
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.289e1

DP
type: SiteQuality
SIO_000300: 1.574657e6

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

GenotypeQuality
all individuals: 1307
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1474
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 3.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.306e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.571837e6

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

GenotypeQuality
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.39e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

DP
type: SiteQuality
SIO_000300: 1.547529e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e0

QD
type: SiteQuality
SIO_000300: 1.176e1

FS
type: SiteQuality
SIO_000300: 8.007e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.570845114671693e-4
allele num: 6366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.725125658572034e-4
allele num: 66052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.407459535538353e-3
allele num: 11368
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.547371e6

VQSLOD
type: SiteQuality
SIO_000300: 5.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6802
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.818000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.661e1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.531234e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1812
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6701
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.061157074885596e-5
allele num: 65994
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.524903e6

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e0

FS
type: SiteQuality
SIO_000300: 2.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2526
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 785
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66022
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.909e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

DP
type: SiteQuality
SIO_000300: 1.515132e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

GenotypeQuality
all individuals: 2257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.823010411152286e-5
allele num: 11334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.79e1

DP
type: SiteQuality
SIO_000300: 1.515332e6

VQSLOD
type: SiteQuality
SIO_000300: -1.225e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.727e0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1798
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.469e1

FS
type: SiteQuality
SIO_000300: 9.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.516417e6

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1654
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.571832756994656e-4
allele num: 6362
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.520278e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.758e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.667e0

QD
type: SiteQuality
SIO_000300: 1.425e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.844e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

GenotypeQuality
all individuals: 2609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30279
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6680
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.0755500207555e-4
allele num: 9636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.259e1

FS
type: SiteQuality
SIO_000300: 6.065e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 1.526157e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

GenotypeQuality
all individuals: 1534
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 30279
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034072635698898e-5
allele num: 65918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.03777501037775e-4
allele num: 9636
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.513703443429375e-4
allele num: 8538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.259e1

FS
type: SiteQuality
SIO_000300: 6.065e0

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.526157e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

GenotypeQuality
all individuals: 1981
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.83127823220608e-4
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514921981517952e-5
allele num: 66010
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.52915e6

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 2.672e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32347
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512172992590352e-5
allele num: 66130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.828376401755241e-4
allele num: 16408
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.548124e6

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

FS
type: SiteQuality
SIO_000300: 1.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.2e1

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

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33032
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 888
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.565091e6

MQRankSum
type: SiteQuality
SIO_000300: 2.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.329e0

VQSLOD
type: SiteQuality
SIO_000300: -2.407e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.673e1

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34084
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029866117404737e-4
allele num: 9710
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.583719e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.141e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

GenotypeQuality
all individuals: 3348
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 795
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8245
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.074085459575776e-4
allele num: 6506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515760002408406e-5
allele num: 66434
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
SIO_000300: 1.609671e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 4.025e0

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

GenotypeQuality
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 393
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35583
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.612518e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

FS
type: SiteQuality
SIO_000300: 2.095e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 1.584e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36514
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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: 6532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007518796992481e-5
allele num: 66500
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

FS
type: SiteQuality
SIO_000300: 1.785e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 1.619562e6

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

GenotypeQuality
all individuals: 37126
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2308
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.508e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

FS
type: SiteQuality
SIO_000300: 7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.635601e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.639e0

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8619
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.4707e1

VQSLOD
type: SiteQuality
SIO_000300: -2.173e0

DP
type: SiteQuality
SIO_000300: 1.637198e6

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.147e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.243e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

GenotypeQuality
all individuals: 970
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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: 898
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 1.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.425e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

QD
type: SiteQuality
SIO_000300: 1.844e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
SIO_000300: 1.643505e6

GenotypeQuality
all individuals: 37591
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8719
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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: 6580
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.93e0

VQSLOD
type: SiteQuality
SIO_000300: -1.694e0

QD
type: SiteQuality
SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 1.3072e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

DP
type: SiteQuality
SIO_000300: 1.646555e6

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3583
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 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: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.6475e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 1.516e0

QD
type: SiteQuality
SIO_000300: 9.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 977
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2333
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: -6.09e-2

DP
type: SiteQuality
SIO_000300: 1.648799e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.143e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.686e0

FS
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.329999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.651382e6

MQRankSum
type: SiteQuality
SIO_000300: -1.259e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

GenotypeQuality
all individuals: 985
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2092
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3635
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2341
bin: 9.75e1
variant carriers: 1

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: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.345e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 1.652781e6

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: -1.444e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 9.923e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeQuality
all individuals: 985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37813
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 9.75e1
variant carriers: 5

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.613e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.364e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 1.653224e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.503e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 985
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2091
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 3.613e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.503e0

QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

DP
type: SiteQuality
SIO_000300: 1.653224e6

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2354
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 9
allele frequency: 1.043357291908185e-3
allele num: 8626
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 2.842e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.653752e6

QD
type: SiteQuality
SIO_000300: 1.399e1

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3607
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37809
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.399e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.653752e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 2.842e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3599
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 898
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.363e1

FS
type: SiteQuality
SIO_000300: 7.316e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.661e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.838e1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.454e0

DP
type: SiteQuality
SIO_000300: 1.653459e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3605
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2351
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.001e1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 4.713e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

VQSLOD
type: SiteQuality
SIO_000300: -1.727e0

DP
type: SiteQuality
SIO_000300: 1.653851e6

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3635
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37886
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.77e1

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.368e0

VQSLOD
type: SiteQuality
SIO_000300: -2.131e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.602e0

DP
type: SiteQuality
SIO_000300: 1.653768e6

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 8.503e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.404e0

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.653847e6

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37911
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2350
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3605
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.989e0

FS
type: SiteQuality
SIO_000300: 4.676e0

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.191e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 1.654098e6

GenotypeDepth
all individuals: 163
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3592
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 9.75e1
variant carriers: 138

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8791
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 968
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.056201550387597e-4
allele num: 16512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.57030541276081e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 104
allele frequency: 1.558379285543035e-3
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

QD
type: SiteQuality
SIO_000300: 1.27e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 1.149e0

DP
type: SiteQuality
SIO_000300: 1.662664e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3633
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3602
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.19e0

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.42e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.831e-1

DP
type: SiteQuality
SIO_000300: 1.65522e6

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 327
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3632
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37881
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 9.75e1
variant carriers: 19

Latino
type: Population
allele count: 14
allele frequency: 1.209398756046994e-3
allele num: 11576
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
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: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.269e0

DP
type: SiteQuality
SIO_000300: 1.656054e6

FS
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37890
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.887e1

VQSLOD
type: SiteQuality
SIO_000300: -2.245e0

FS
type: SiteQuality
SIO_000300: 1.4167e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 7.83e0

DP
type: SiteQuality
SIO_000300: 1.655368e6

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8805
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.655446e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.029e0

QD
type: SiteQuality
SIO_000300: 1.291e1

FS
type: SiteQuality
SIO_000300: 3.625e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeDepth
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

DP
type: SiteQuality
SIO_000300: 1.655425e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.677e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 2.825e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeDepth
all individuals: 325
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.6697e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.301e0

QD
type: SiteQuality
SIO_000300: 1.393e1

DP
type: SiteQuality
SIO_000300: 1.655499e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2099
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37890
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 4.6e-2

FS
type: SiteQuality
SIO_000300: 4.281e0

VQSLOD
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.793e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.655566e6

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3183
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37890
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.655566e6

FS
type: SiteQuality
SIO_000300: 4.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.793e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 37894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.655386e6

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

FS
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 37884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 2.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.655458e6

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

GenotypeDepth
all individuals: 1559
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9368
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37883
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3630
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.655419e6

FS
type: SiteQuality
SIO_000300: 1.0612e1

QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeDepth
all individuals: 22874
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37890
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

VQSLOD
type: SiteQuality
SIO_000300: -2.058e0

FS
type: SiteQuality
SIO_000300: 1.4908e1

DP
type: SiteQuality
SIO_000300: 1.65544e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

QD
type: SiteQuality
SIO_000300: 4.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8806
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 9.75e1
variant carriers: 3

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.655612e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

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

GenotypeDepth
all individuals: 695
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37883
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 9

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990919171636647e-5
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

DP
type: SiteQuality
SIO_000300: 1.656082e6

QD
type: SiteQuality
SIO_000300: 1.446e1

FS
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37890
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8797
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.371e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 1.655462e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

GenotypeDepth
all individuals: 9368
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8797
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.247e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.099e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.6554e6

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 2

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.655398e6

FS
type: SiteQuality
SIO_000300: 1.2042e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e0

QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.797773654916512e-4
allele num: 8624
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.227e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 1.745e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.655656e6

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeDepth
all individuals: 327
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3600
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993075331994364e-5
allele num: 66718
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.103e0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 1.655578e6

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.74e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9364
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8797
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37861
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.19e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.655302e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
all individuals: 697
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37834
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.854e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.614e0

QD
type: SiteQuality
SIO_000300: 1.072e1

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.973e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.654941e6

GenotypeDepth
all individuals: 69
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37702
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.476e0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.296e0

MQ
type: SiteQuality
SIO_000300: 4.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

DP
type: SiteQuality
SIO_000300: 1.652705e6

QD
type: SiteQuality
SIO_000300: 1.009e1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1559
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 3585
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37133
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8718
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 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: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.039684213698134e-5
allele num: 66374
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.591e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 1.645987e6

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21456
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1562
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.640194e6

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 4.297e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.808e0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3172
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1168
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519849230956289e-5
allele num: 65796
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.631661e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.584e1

FS
type: SiteQuality
SIO_000300: 2.017e0

MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

GenotypeDepth
all individuals: 695
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22143
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 971
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524204365321302e-5
allele num: 65608
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.794e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

DP
type: SiteQuality
SIO_000300: 1.629324e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

GenotypeDepth
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.438e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.277e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

DP
type: SiteQuality
SIO_000300: 1.626352e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.903e0

GenotypeDepth
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8599
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65240
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.534e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.746e0

MQ
type: SiteQuality
SIO_000300: 6.0e1