3-4824380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824380
    reference: chr 3
allele count: 7
allele frequency: 5.983519677231853e-5
allele num: 116988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.357G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6321G>A
  hgvsp: ENST00000423119.2:c.6321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6276G>A
  hgvsp: ENST00000456211.2:c.6276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6321G>A
  hgvsp: ENST00000357086.4:c.6321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23407G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6420G>A
  hgvsp: ENST00000443694.2:c.6420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6420G>A
  hgvsp: ENST00000354582.6:c.6420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6420G>A
  hgvsp: ENST00000302640.8:c.6420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala2140Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

3-4824381-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824381
    reference: chr 3
allele count: 1
allele frequency: 8.565750702391558e-6
allele num: 116744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6322T>A
  hgvsp: ENSP00000349597.4:p.Ser2108Thr
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6421T>A
  hgvsp: ENSP00000346595.6:p.Ser2141Thr
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6421T>A
  hgvsp: ENSP00000306253.8:p.Ser2141Thr
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6277T>A
  hgvsp: ENSP00000397885.2:p.Ser2093Thr
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6322T>A
  hgvsp: ENSP00000405934.2:p.Ser2108Thr
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.358T>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6421T>A
  hgvsp: ENSP00000401671.2:p.Ser2141Thr
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23406T>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser2141Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

3-4824383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824383
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824383
    reference: chr 3
allele count: 1
allele frequency: 8.584280465611372e-6
allele num: 116492
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6423C>T
  hgvsp: ENST00000302640.8:c.6423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6324C>T
  hgvsp: ENST00000423119.2:c.6324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6423C>T
  hgvsp: ENST00000354582.6:c.6423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6279C>T
  hgvsp: ENST00000456211.2:c.6279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.360C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23404C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6324C>T
  hgvsp: ENST00000357086.4:c.6324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6423C>T
  hgvsp: ENST00000443694.2:c.6423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser2141Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

3-4824384-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824384
    reference: chr 3
allele count: 1
allele frequency: 8.589884551951622e-6
allele num: 116416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6424C>G
  hgvsp: ENSP00000401671.2:p.Pro2142Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6280C>G
  hgvsp: ENSP00000397885.2:p.Pro2094Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6424C>G
  hgvsp: ENSP00000306253.8:p.Pro2142Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6325C>G
  hgvsp: ENSP00000349597.4:p.Pro2109Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6325C>G
  hgvsp: ENSP00000405934.2:p.Pro2109Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6424C>G
  hgvsp: ENSP00000346595.6:p.Pro2142Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23403C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.361C>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro2142Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-4824395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824395
    reference: chr 3
allele count: 1
allele frequency: 8.700948403375968e-6
allele num: 114930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6435G>A
  hgvsp: ENST00000302640.8:c.6435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6435G>A
  hgvsp: ENST00000354582.6:c.6435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6435G>A
  hgvsp: ENST00000443694.2:c.6435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.372G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6291G>A
  hgvsp: ENST00000456211.2:c.6291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6336G>A
  hgvsp: ENST00000423119.2:c.6336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23392G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6336G>A
  hgvsp: ENST00000357086.4:c.6336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val2145Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-4824419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824419
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824419
    reference: chr 3
allele count: 1
allele frequency: 8.945183912981251e-6
allele num: 111792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6459C>T
  hgvsp: ENST00000354582.6:c.6459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23368C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6360C>T
  hgvsp: ENST00000357086.4:c.6360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.396C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6459C>T
  hgvsp: ENST00000302640.8:c.6459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6360C>T
  hgvsp: ENST00000423119.2:c.6360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6459C>T
  hgvsp: ENST00000443694.2:c.6459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6315C>T
  hgvsp: ENST00000456211.2:c.6315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala2153Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

3-4824431-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824431
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824431
    reference: chr 3
allele count: 1
allele frequency: 9.047644898033042e-6
allele num: 110526
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+6A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+6A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+6A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+6A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+6A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23356A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+6A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+6A>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
hgvs: c.6465+6A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

3-4824432-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824432
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824432
    reference: chr 3
allele count: 153
allele frequency: 1.385744044923467e-3
allele num: 110410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+7T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+7T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+7T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+7T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23355T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+7T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+7T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+7T>C
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 21911
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 10308
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
hgvs: c.6465+7T>C
num of homozygotes: 1
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-4824440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824440
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824440
    reference: chr 3
allele count: 1
allele frequency: 9.114440920193956e-6
allele num: 109716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+15G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23347G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+15G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+15G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+15G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+15G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+15G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+15G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

3-4824446-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824446
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824446
    reference: chr 3
allele count: 9
allele frequency: 8.238589553468446e-5
allele num: 109242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+21C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23341C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+21C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+21C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+21C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+21C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+21C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+21C>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18647
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-4824452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824452
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824452
    reference: chr 3
allele count: 1
allele frequency: 9.181893306399779e-6
allele num: 108910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+27G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+27G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+27G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+27G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+27G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23335G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+27G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+27G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

3-4824454-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824454
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824454
    reference: chr 3
allele count: 7
allele frequency: 6.429686782401028e-5
allele num: 108870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+29T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+29T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23333T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+29T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+29T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+29T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+29T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+29T>C
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10439
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16431
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-4824458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824458
    reference: chr 3
allele count: 2
allele frequency: 1.842163436740108e-5
allele num: 108568
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+33G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+33G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23329G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+33G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+33G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+33G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+33G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+33G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15004
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

3-4824458-G-GCCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824462
    reference: chr 3
allele count: 4
allele frequency: 3.684326873480215e-5
allele num: 108568
alternate allele: GCCTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23325_997-23322dupCCCT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+37_6465+40dupCCCT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+37_6366+40dupCCCT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+37_6465+40dupCCCT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+37_402+40dupCCCT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+37_6465+40dupCCCT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+37_6321+40dupCCCT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+37_6366+40dupCCCT
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15004
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-4824464-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824464
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824463
    reference: chr 3
allele count: 1
allele frequency: 9.24487833740108e-6
allele num: 108168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+40delT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23322delT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+40delT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+40delT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+40delT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+40delT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+40delT
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+40delT
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CT
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-4824466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824466
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824466
    reference: chr 3
allele count: 1
allele frequency: 9.250180378517381e-6
allele num: 108106
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+41A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+41A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+41A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+41A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+41A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23321A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+41A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+41A>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-4824467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824467
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824467
    reference: chr 3
allele count: 1
allele frequency: 9.257716306541503e-6
allele num: 108018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+42C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+42C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+42C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23320C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+42C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+42C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+42C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+42C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

3-4824473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4824473
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4824473
    reference: chr 3
allele count: 3
allele frequency: 2.796994163605512e-5
allele num: 107258
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6465+48C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.402+48C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6465+48C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-23314C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6321+48C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6366+48C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6465+48C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6366+48C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5717
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

3-4825460-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825460
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825460
    reference: chr 3
allele count: 5
allele frequency: 1.348799568384138e-4
allele num: 37070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6466-40A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6367-40A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6466-40A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6322-40A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6367-40A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22327A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6466-40A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.403-40A>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25768
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

3-4825468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825468
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 37870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22319C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.403-32C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6367-32C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6466-32C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6466-32C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6466-32C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6367-32C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6322-32C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27479
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10940
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21727
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-4825493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825493
    reference: chr 3
allele count: 3
allele frequency: 6.639224538573895e-5
allele num: 45186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6466-7A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6322-7A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6367-7A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6466-7A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22294A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6466-7A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6367-7A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.403-7A>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 0
hgvs: c.6466-7A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

3-4825496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825496
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825496
    reference: chr 3
allele count: 1
allele frequency: 2.163378331602631e-5
allele num: 46224
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6466-4C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6322-4C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6367-4C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.403-4C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6466-4C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22291C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6367-4C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6466-4C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9329
  bin: 6.25e1
  variant carriers: 0
hgvs: c.6466-4C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-4825553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825553
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825553
    reference: chr 3
allele count: 2
allele frequency: 2.560360498758225e-5
allele num: 78114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6420G>A
  hgvsp: ENST00000423119.2:c.6420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22234G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6519G>A
  hgvsp: ENST00000354582.6:c.6519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6375G>A
  hgvsp: ENST00000456211.2:c.6375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.456G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6420G>A
  hgvsp: ENST00000357086.4:c.6420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6519G>A
  hgvsp: ENST00000443694.2:c.6519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6519G>A
  hgvsp: ENST00000302640.8:c.6519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val2173Val
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

3-4825556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825556
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825556
    reference: chr 3
allele count: 5
allele frequency: 6.391900184086726e-5
allele num: 78224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6378C>T
  hgvsp: ENST00000456211.2:c.6378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6423C>T
  hgvsp: ENST00000423119.2:c.6423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6522C>T
  hgvsp: ENST00000354582.6:c.6522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6522C>T
  hgvsp: ENST00000302640.8:c.6522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6423C>T
  hgvsp: ENST00000357086.4:c.6423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6522C>T
  hgvsp: ENST00000443694.2:c.6522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.459C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22231C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp2174Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-4825568-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825568
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825568
    reference: chr 3
allele count: 4
allele frequency: 5.247828710870877e-5
allele num: 76222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6534C>A
  hgvsp: ENST00000302640.8:c.6534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6435C>A
  hgvsp: ENST00000423119.2:c.6435C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6534C>A
  hgvsp: ENST00000354582.6:c.6534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6390C>A
  hgvsp: ENST00000456211.2:c.6390C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6435C>A
  hgvsp: ENST00000357086.4:c.6435C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22219C>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6534C>A
  hgvsp: ENST00000443694.2:c.6534C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.471C>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21299
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2178Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

3-4825575-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825575
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825575
    reference: chr 3
allele count: 2
allele frequency: 2.716874507566495e-5
allele num: 73614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6442T>A
  hgvsp: ENSP00000405934.2:p.Phe2148Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6541T>A
  hgvsp: ENSP00000401671.2:p.Phe2181Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6541T>A
  hgvsp: ENSP00000346595.6:p.Phe2181Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6541T>A
  hgvsp: ENSP00000306253.8:p.Phe2181Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.478T>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6397T>A
  hgvsp: ENSP00000397885.2:p.Phe2133Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6442T>A
  hgvsp: ENSP00000349597.4:p.Phe2148Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22212T>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe2181Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

3-4825583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825583
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825583
    reference: chr 3
allele count: 3
allele frequency: 4.307992762572159e-5
allele num: 69638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6549C>T
  hgvsp: ENST00000443694.2:c.6549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6549C>T
  hgvsp: ENST00000354582.6:c.6549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6405C>T
  hgvsp: ENST00000456211.2:c.6405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6450C>T
  hgvsp: ENST00000423119.2:c.6450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.486C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22204C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6549C>T
  hgvsp: ENST00000302640.8:c.6549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6450C>T
  hgvsp: ENST00000357086.4:c.6450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala2183Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

3-4825591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825591
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825591
    reference: chr 3
allele count: 2
allele frequency: 3.065603923973023e-5
allele num: 65240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6557C>T
  hgvsp: ENSP00000306253.8:p.Thr2186Met
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6458C>T
  hgvsp: ENSP00000405934.2:p.Thr2153Met
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6413C>T
  hgvsp: ENSP00000397885.2:p.Thr2138Met
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6557C>T
  hgvsp: ENSP00000401671.2:p.Thr2186Met
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.494C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6458C>T
  hgvsp: ENSP00000349597.4:p.Thr2153Met
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22196C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6557C>T
  hgvsp: ENSP00000346595.6:p.Thr2186Met
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr2186Met
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

3-4825592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825592
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825592
    reference: chr 3
allele count: 1
allele frequency: 1.557875058420315e-5
allele num: 64190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6459G>A
  hgvsp: ENST00000357086.4:c.6459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6459G>A
  hgvsp: ENST00000423119.2:c.6459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6414G>A
  hgvsp: ENST00000456211.2:c.6414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.495G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6558G>A
  hgvsp: ENST00000354582.6:c.6558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6558G>A
  hgvsp: ENST00000302640.8:c.6558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22195G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6558G>A
  hgvsp: ENST00000443694.2:c.6558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr2186Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

3-4825594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825594
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825594
    reference: chr 3
allele count: 1
allele frequency: 1.57410905427528e-5
allele num: 63528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6461C>T
  hgvsp: ENSP00000405934.2:p.Ala2154Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6560C>T
  hgvsp: ENSP00000306253.8:p.Ala2187Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6560C>T
  hgvsp: ENSP00000346595.6:p.Ala2187Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22193C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.497C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6416C>T
  hgvsp: ENSP00000397885.2:p.Ala2139Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6461C>T
  hgvsp: ENSP00000349597.4:p.Ala2154Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6560C>T
  hgvsp: ENSP00000401671.2:p.Ala2187Val
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 25175
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9778
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala2187Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-4825595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825595
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825595
    reference: chr 3
allele count: 3
allele frequency: 4.820361205733016e-5
allele num: 62236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.498G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22192G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6462G>A
  hgvsp: ENST00000357086.4:c.6462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6417G>A
  hgvsp: ENST00000456211.2:c.6417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6561G>A
  hgvsp: ENST00000443694.2:c.6561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6462G>A
  hgvsp: ENST00000423119.2:c.6462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6561G>A
  hgvsp: ENST00000302640.8:c.6561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6561G>A
  hgvsp: ENST00000354582.6:c.6561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2187Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

3-4825611-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825611
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825611
    reference: chr 3
allele count: 1
allele frequency: 1.846994939233867e-5
allele num: 54142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6570+7G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22176G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6471+7G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6471+7G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.507+7G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6426+7G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6570+7G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6570+7G>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
hgvs: c.6570+7G>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

3-4825626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825626
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825626
    reference: chr 3
allele count: 1
allele frequency: 2.274381368267831e-5
allele num: 43968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6471+22G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.507+22G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6570+22G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6426+22G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22161G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6570+22G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6471+22G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6570+22G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26677
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-4825627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825627
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825627
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 42574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22160G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6471+23G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.507+23G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6570+23G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6426+23G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6570+23G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6471+23G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6570+23G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25205
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

3-4825646-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825646
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825646
    reference: chr 3
allele count: 1
allele frequency: 2.961734391659756e-5
allele num: 33764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6570+42C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.507+42C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22141C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6471+42C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6426+42C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6471+42C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6570+42C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6570+42C>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

3-4825647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4825647
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4825647
    reference: chr 3
allele count: 1
allele frequency: 3.051385328939338e-5
allele num: 32772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6570+43C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6426+43C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6570+43C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-22140C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6471+43C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6570+43C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.507+43C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6471+43C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13644
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-4829587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829587
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829587
    reference: chr 3
allele count: 1
allele frequency: 1.679599583459303e-5
allele num: 59538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18200G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.508-44G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6427-44G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6571-44G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6472-44G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6472-44G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6571-44G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6571-44G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

3-4829587-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829587
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829587
    reference: chr 3
allele count: 5
allele frequency: 8.397997917296517e-5
allele num: 59538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6571-44G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.508-44G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18200G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6571-44G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6472-44G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6472-44G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6427-44G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6571-44G>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24406
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

3-4829600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829600
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829600
    reference: chr 3
allele count: 1
allele frequency: 1.595914458984998e-5
allele num: 62660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.508-31A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6571-31A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18187A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6472-31A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6427-31A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6472-31A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6571-31A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6571-31A>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-4829607-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829607
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829607
    reference: chr 3
allele count: 1
allele frequency: 1.517727051966974e-5
allele num: 65888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6472-24A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18180A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6472-24A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6427-24A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6571-24A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.508-24A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6571-24A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6571-24A>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

3-4829620-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829620
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829620
    reference: chr 3
allele count: 1
allele frequency: 1.283433441141742e-5
allele num: 77916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6571-11T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6571-11T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6472-11T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6472-11T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6427-11T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18167T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.508-11T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6571-11T>C
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-4829625-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829625
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829625
    reference: chr 3
allele count: 1
allele frequency: 1.204761216326924e-5
allele num: 83004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6571-6T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18162T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6571-6T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6472-6T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6571-6T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6427-6T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.508-6T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6472-6T>C
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
hgvs: c.6571-6T>C
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-4829643-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829643
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829643
    reference: chr 3
allele count: 1
allele frequency: 1.020970738978621e-5
allele num: 97946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6484G>C
  hgvsp: ENSP00000349597.4:p.Asp2162His
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6439G>C
  hgvsp: ENSP00000397885.2:p.Asp2147His
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6484G>C
  hgvsp: ENSP00000405934.2:p.Asp2162His
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18144G>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6583G>C
  hgvsp: ENSP00000401671.2:p.Asp2195His
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.520G>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6583G>C
  hgvsp: ENSP00000346595.6:p.Asp2195His
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6583G>C
  hgvsp: ENSP00000306253.8:p.Asp2195His
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp2195His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-4829647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829647
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829647
    reference: chr 3
allele count: 1
allele frequency: 9.994403134244822e-6
allele num: 100056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6587G>A
  hgvsp: ENSP00000401671.2:p.Arg2196Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6488G>A
  hgvsp: ENSP00000349597.4:p.Arg2163Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6443G>A
  hgvsp: ENSP00000397885.2:p.Arg2148Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18140G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6488G>A
  hgvsp: ENSP00000405934.2:p.Arg2163Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6587G>A
  hgvsp: ENSP00000306253.8:p.Arg2196Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.524G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6587G>A
  hgvsp: ENSP00000346595.6:p.Arg2196Gln
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg2196Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-4829672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829672
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829672
    reference: chr 3
allele count: 4
allele frequency: 3.747564083345826e-5
allele num: 106736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6612C>T
  hgvsp: ENST00000354582.6:c.6612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6513C>T
  hgvsp: ENST00000423119.2:c.6513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18115C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6612C>T
  hgvsp: ENST00000443694.2:c.6612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6468C>T
  hgvsp: ENST00000456211.2:c.6468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6612C>T
  hgvsp: ENST00000302640.8:c.6612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6513C>T
  hgvsp: ENST00000357086.4:c.6513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000150995
  ensembl transcript: ENST00000481415
  gene symbol: ITPR1
  hgvsc: ENST00000481415.1:n.549C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32695
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro2204Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

3-4829676-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829676
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829676
    reference: chr 3
allele count: 1
allele frequency: 9.317233154442456e-6
allele num: 107328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6616C>G
  hgvsp: ENSP00000346595.6:p.Pro2206Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6517C>G
  hgvsp: ENSP00000405934.2:p.Pro2173Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6616C>G
  hgvsp: ENSP00000401671.2:p.Pro2206Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6472C>G
  hgvsp: ENSP00000397885.2:p.Pro2158Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6616C>G
  hgvsp: ENSP00000306253.8:p.Pro2206Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6517C>G
  hgvsp: ENSP00000349597.4:p.Pro2173Ala
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18111C>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2206Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

3-4829680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829680
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829680
    reference: chr 3
allele count: 3
allele frequency: 2.786912658157294e-5
allele num: 107646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6620G>A
  hgvsp: ENSP00000401671.2:p.Ser2207Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18107G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6521G>A
  hgvsp: ENSP00000349597.4:p.Ser2174Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6476G>A
  hgvsp: ENSP00000397885.2:p.Ser2159Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6521G>A
  hgvsp: ENSP00000405934.2:p.Ser2174Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6620G>A
  hgvsp: ENSP00000306253.8:p.Ser2207Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6620G>A
  hgvsp: ENSP00000346595.6:p.Ser2207Asn
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34581
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser2207Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-4829682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829682
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829682
    reference: chr 3
allele count: 1
allele frequency: 9.271621421154131e-6
allele num: 107856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6622A>G
  hgvsp: ENSP00000401671.2:p.Ile2208Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6523A>G
  hgvsp: ENSP00000349597.4:p.Ile2175Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6478A>G
  hgvsp: ENSP00000397885.2:p.Ile2160Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18105A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6523A>G
  hgvsp: ENSP00000405934.2:p.Ile2175Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6622A>G
  hgvsp: ENSP00000346595.6:p.Ile2208Val
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6622A>G
  hgvsp: ENSP00000306253.8:p.Ile2208Val
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile2208Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

3-4829687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829687
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829687
    reference: chr 3
allele count: 2
allele frequency: 1.853980496125181e-5
allele num: 107876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6528T>C
  hgvsp: ENST00000357086.4:c.6528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18100T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6627T>C
  hgvsp: ENST00000354582.6:c.6627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6627T>C
  hgvsp: ENST00000443694.2:c.6627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6627T>C
  hgvsp: ENST00000302640.8:c.6627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6483T>C
  hgvsp: ENST00000456211.2:c.6483T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6528T>C
  hgvsp: ENST00000423119.2:c.6528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys2209Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

3-4829690-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829690
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829690
    reference: chr 3
allele count: 4
allele frequency: 3.709955666029791e-5
allele num: 107818
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6630A>G
  hgvsp: ENST00000302640.8:c.6630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6531A>G
  hgvsp: ENST00000423119.2:c.6531A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6630A>G
  hgvsp: ENST00000354582.6:c.6630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6486A>G
  hgvsp: ENST00000456211.2:c.6486A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6531A>G
  hgvsp: ENST00000357086.4:c.6531A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18097A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6630A>G
  hgvsp: ENST00000443694.2:c.6630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu2210Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

3-4829702-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829702
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829702
    reference: chr 3
allele count: 2
allele frequency: 1.855287569573284e-5
allele num: 107800
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6642G>T
  hgvsp: ENSP00000306253.8:p.Lys2214Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6543G>T
  hgvsp: ENSP00000349597.4:p.Lys2181Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6498G>T
  hgvsp: ENSP00000397885.2:p.Lys2166Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6642G>T
  hgvsp: ENSP00000401671.2:p.Lys2214Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6543G>T
  hgvsp: ENSP00000405934.2:p.Lys2181Asn
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18085G>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6642G>T
  hgvsp: ENSP00000346595.6:p.Lys2214Asn
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28250
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys2214Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

3-4829708-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829708
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829708
    reference: chr 3
allele count: 4
allele frequency: 3.716712196391072e-5
allele num: 107622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18079A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6648A>G
  hgvsp: ENST00000354582.6:c.6648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6648A>G
  hgvsp: ENST00000443694.2:c.6648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6549A>G
  hgvsp: ENST00000357086.4:c.6549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6648A>G
  hgvsp: ENST00000302640.8:c.6648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6504A>G
  hgvsp: ENST00000456211.2:c.6504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6549A>G
  hgvsp: ENST00000423119.2:c.6549A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27233
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser2216Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-4829711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829711
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829711
    reference: chr 3
allele count: 3422
allele frequency: 3.171631416019426e-2
allele num: 107894
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18076A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6651A>G
  hgvsp: ENST00000302640.8:c.6651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6651A>G
  hgvsp: ENST00000443694.2:c.6651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6651A>G
  hgvsp: ENST00000354582.6:c.6651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6552A>G
  hgvsp: ENST00000357086.4:c.6552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6507A>G
  hgvsp: ENST00000456211.2:c.6507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6552A>G
  hgvsp: ENST00000423119.2:c.6552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 1.25e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 1.75e1
  variant carriers: 519
genotype depth: GenotypeDepth
  all individuals: 26151
  bin: 2.25e1
  variant carriers: 667
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 2.75e1
  variant carriers: 558
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 590
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 191
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 3.75e1
  variant carriers: 5
hgvs: p.Lys2217Lys
num of homozygotes: 67
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

3-4829716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829716
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829716
    reference: chr 3
allele count: 3
allele frequency: 2.791216970599181e-5
allele num: 107480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6557G>A
  hgvsp: ENSP00000349597.4:p.Arg2186Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6656G>A
  hgvsp: ENSP00000401671.2:p.Arg2219Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6656G>A
  hgvsp: ENSP00000346595.6:p.Arg2219Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6512G>A
  hgvsp: ENSP00000397885.2:p.Arg2171Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6557G>A
  hgvsp: ENSP00000405934.2:p.Arg2186Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6656G>A
  hgvsp: ENSP00000306253.8:p.Arg2219Gln
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18071G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg2219Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/3-4829725-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829725
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829725
    reference: chr 3
allele count: 2
allele frequency: 1.869613177033672e-5
allele num: 106974
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6665A>C
  hgvsp: ENSP00000306253.8:p.Tyr2222Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6566A>C
  hgvsp: ENSP00000405934.2:p.Tyr2189Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6521A>C
  hgvsp: ENSP00000397885.2:p.Tyr2174Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6665A>C
  hgvsp: ENSP00000401671.2:p.Tyr2222Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18062A>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6566A>C
  hgvsp: ENSP00000349597.4:p.Tyr2189Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6665A>C
  hgvsp: ENSP00000346595.6:p.Tyr2222Ser
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24725
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr2222Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-4829726-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829726
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829726
    reference: chr 3
allele count: 2
allele frequency: 1.870557426112982e-5
allele num: 106920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6666T>C
  hgvsp: ENST00000354582.6:c.6666T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6522T>C
  hgvsp: ENST00000456211.2:c.6522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6567T>C
  hgvsp: ENST00000357086.4:c.6567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18061T>C
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6666T>C
  hgvsp: ENST00000443694.2:c.6666T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6666T>C
  hgvsp: ENST00000302640.8:c.6666T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6567T>C
  hgvsp: ENST00000423119.2:c.6567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24692
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr2222Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-4829732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829732
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829732
    reference: chr 3
allele count: 35663
allele frequency: 3.294199150193978e-1
allele num: 108260
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6573A>G
  hgvsp: ENST00000357086.4:c.6573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6528A>G
  hgvsp: ENST00000456211.2:c.6528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6573A>G
  hgvsp: ENST00000423119.2:c.6573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6672A>G
  hgvsp: ENST00000354582.6:c.6672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6672A>G
  hgvsp: ENST00000443694.2:c.6672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18055A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6672A>G
  hgvsp: ENST00000302640.8:c.6672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 827
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 1.75e1
  variant carriers: 5099
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 7.5e0
  variant carriers: 437
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 9.75e1
  variant carriers: 4690
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 1481
genotype depth: GenotypeDepth
  all individuals: 18211
  bin: 2.25e1
  variant carriers: 6123
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 1.25e1
  variant carriers: 2483
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.25e1
  variant carriers: 2866
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 2.75e1
  variant carriers: 4673
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 4.75e1
  variant carriers: 390
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.5e0
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 244
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 5.25e1
  variant carriers: 414
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 2.25e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 27032
  bin: 9.75e1
  variant carriers: 25931
hgvs: p.Thr2224Thr
num of homozygotes: 5613
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

3-4829741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829741
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829741
    reference: chr 3
allele count: 1
allele frequency: 1.022766788716837e-5
allele num: 97774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6681C>T
  hgvsp: ENST00000443694.2:c.6681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6681C>T
  hgvsp: ENST00000302640.8:c.6681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6537C>T
  hgvsp: ENST00000456211.2:c.6537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6582C>T
  hgvsp: ENST00000357086.4:c.6582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18046C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6681C>T
  hgvsp: ENST00000354582.6:c.6681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6582C>T
  hgvsp: ENST00000423119.2:c.6582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp2227Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-4829750-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829750
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829750
    reference: chr 3
allele count: 2
allele frequency: 2.114880297775146e-5
allele num: 94568
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6690C>A
  hgvsp: ENST00000302640.8:c.6690C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6591C>A
  hgvsp: ENST00000423119.2:c.6591C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6690C>A
  hgvsp: ENST00000443694.2:c.6690C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18037C>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6591C>A
  hgvsp: ENST00000357086.4:c.6591C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6546C>A
  hgvsp: ENST00000456211.2:c.6546C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6690C>A
  hgvsp: ENST00000354582.6:c.6690C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly2230Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-4829756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829756
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829756
    reference: chr 3
allele count: 7
allele frequency: 7.513631874973165e-5
allele num: 93164
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6696A>G
  hgvsp: ENST00000302640.8:c.6696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18031A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6597A>G
  hgvsp: ENST00000357086.4:c.6597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6597A>G
  hgvsp: ENST00000423119.2:c.6597A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6696A>G
  hgvsp: ENST00000354582.6:c.6696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6552A>G
  hgvsp: ENST00000456211.2:c.6552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6696A>G
  hgvsp: ENST00000443694.2:c.6696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9897
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16981
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys2232Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-4829775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829775
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829775
    reference: chr 3
allele count: 1
allele frequency: 1.184076538707462e-5
allele num: 84454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6715C>T
  hgvsp: ENSP00000346595.6:p.Arg2239Trp
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6616C>T
  hgvsp: ENSP00000349597.4:p.Arg2206Trp
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6616C>T
  hgvsp: ENSP00000405934.2:p.Arg2206Trp
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18012C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6715C>T
  hgvsp: ENSP00000306253.8:p.Arg2239Trp
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6571C>T
  hgvsp: ENSP00000397885.2:p.Arg2191Trp
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6715C>T
  hgvsp: ENSP00000401671.2:p.Arg2239Trp
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg2239Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-4829786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829786
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829786
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 79994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6726C>T
  hgvsp: ENST00000443694.2:c.6726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6726C>T
  hgvsp: ENST00000302640.8:c.6726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6627C>T
  hgvsp: ENST00000357086.4:c.6627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6627C>T
  hgvsp: ENST00000423119.2:c.6627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6726C>T
  hgvsp: ENST00000354582.6:c.6726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6582C>T
  hgvsp: ENST00000456211.2:c.6582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18001C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Asp2242Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-4829787-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829787
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829787
    reference: chr 3
allele count: 1
allele frequency: 1.258526517153716e-5
allele num: 79458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6628C>A
  hgvsp: ENSP00000405934.2:p.Leu2210Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6628C>A
  hgvsp: ENSP00000349597.4:p.Leu2210Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6727C>A
  hgvsp: ENSP00000306253.8:p.Leu2243Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18000C>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6727C>A
  hgvsp: ENSP00000346595.6:p.Leu2243Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6727C>A
  hgvsp: ENSP00000401671.2:p.Leu2243Ile
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6583C>A
  hgvsp: ENSP00000397885.2:p.Leu2195Ile
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15917
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu2243Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

3-4829787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829787
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829787
    reference: chr 3
allele count: 1
allele frequency: 1.258526517153716e-5
allele num: 79458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6727C>T
  hgvsp: ENSP00000346595.6:p.Leu2243Phe
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6628C>T
  hgvsp: ENSP00000405934.2:p.Leu2210Phe
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6628C>T
  hgvsp: ENSP00000349597.4:p.Leu2210Phe
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-18000C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6727C>T
  hgvsp: ENSP00000306253.8:p.Leu2243Phe
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6727C>T
  hgvsp: ENSP00000401671.2:p.Leu2243Phe
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6583C>T
  hgvsp: ENSP00000397885.2:p.Leu2195Phe
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu2243Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-4829794-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829794
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829794
    reference: chr 3
allele count: 1
allele frequency: 1.313956849657057e-5
allele num: 76106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6635A>G
  hgvsp: ENSP00000405934.2:p.Asn2212Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6635A>G
  hgvsp: ENSP00000349597.4:p.Asn2212Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6590A>G
  hgvsp: ENSP00000397885.2:p.Asn2197Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-17993A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6734A>G
  hgvsp: ENSP00000306253.8:p.Asn2245Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6734A>G
  hgvsp: ENSP00000401671.2:p.Asn2245Ser
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6734A>G
  hgvsp: ENSP00000346595.6:p.Asn2245Ser
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn2245Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-4829798-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829798
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829798
    reference: chr 3
allele count: 1
allele frequency: 1.343435971841582e-5
allele num: 74436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6738A>G
  hgvsp: ENST00000443694.2:c.6738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6639A>G
  hgvsp: ENST00000423119.2:c.6639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-17989A>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6639A>G
  hgvsp: ENST00000357086.4:c.6639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6738A>G
  hgvsp: ENST00000302640.8:c.6738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6594A>G
  hgvsp: ENST00000456211.2:c.6594A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6738A>G
  hgvsp: ENST00000354582.6:c.6738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu2246Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-4829819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829819
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829819
    reference: chr 3
allele count: 1
allele frequency: 1.516070345664039e-5
allele num: 65960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6660G>A
  hgvsp: ENST00000423119.2:c.6660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6615G>A
  hgvsp: ENST00000456211.2:c.6615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6759G>A
  hgvsp: ENST00000354582.6:c.6759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6759G>A
  hgvsp: ENST00000443694.2:c.6759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-17968G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6759G>A
  hgvsp: ENST00000302640.8:c.6759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6660G>A
  hgvsp: ENST00000357086.4:c.6660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu2253Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-4829827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829827
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829827
    reference: chr 3
allele count: 1
allele frequency: 1.598925522049183e-5
allele num: 62542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-17960G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6619+4G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6763+4G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6664+4G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6664+4G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6763+4G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6763+4G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15740
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
hgvs: c.6763+4G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-4829831-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829831
    reference: chr 3
allele count: 10
allele frequency: 1.642629521337757e-4
allele num: 60878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6664+8C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-17956C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6763+8C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6763+8C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6664+8C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6619+8C>G
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6763+8C>G
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15631
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22946
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 1.25e1
  variant carriers: 0
hgvs: c.6763+8C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-4829835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829835
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829835
    reference: chr 3
allele count: 11
allele frequency: 1.874510071231383e-4
allele num: 58682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6664+12C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6664+12C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6619+12C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6763+12C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6763+12C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-17952C>T
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6763+12C>T
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22903
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15374
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-4829836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4829836
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 4829836
    reference: chr 3
allele count: 5
allele frequency: 8.597860852219968e-5
allele num: 58154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000349597
  ensembl transcript: ENST00000357086
  gene symbol: ITPR1
  hgvsc: ENST00000357086.4:c.6664+13G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000346595
  ensembl transcript: ENST00000354582
  gene symbol: ITPR1
  hgvsc: ENST00000354582.6:c.6763+13G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000401671
  ensembl transcript: ENST00000443694
  gene symbol: ITPR1
  hgvsc: ENST00000443694.2:c.6763+13G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000440564
  ensembl transcript: ENST00000544951
  gene symbol: ITPR1
  hgvsc: ENST00000544951.1:c.997-17951G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000397885
  ensembl transcript: ENST00000456211
  gene symbol: ITPR1
  hgvsc: ENST00000456211.2:c.6619+13G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000405934
  ensembl transcript: ENST00000423119
  gene symbol: ITPR1
  hgvsc: ENST00000423119.2:c.6664+13G>A
  variant of: http://identifiers.org/hgnc/6180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000150995
  ensembl protein: ENSP00000306253
  ensembl transcript: ENST00000302640
  gene symbol: ITPR1
  hgvsc: ENST00000302640.8:c.6763+13G>A
  variant of: http://identifiers.org/hgnc/6180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5751
bin: 9.75e1
variant carriers: 7

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13896
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.065027538569212e-4
allele num: 65726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.425e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.654e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 3.259e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 1.809211e6

GenotypeQuality
all individuals: 2948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5724
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 892
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30948
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
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: 13738
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: -2.971e0

QD
type: SiteQuality
SIO_000300: 2.832e1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

DP
type: SiteQuality
SIO_000300: 1.806739e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

FS
type: SiteQuality
SIO_000300: 3.775e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

GenotypeQuality
all individuals: 2154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524715640533041e-5
allele num: 65586
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.801383e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.765e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

QD
type: SiteQuality
SIO_000300: 1.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.738e-1

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.390983000739098e-5
allele num: 13530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

QD
type: SiteQuality
SIO_000300: 1.596e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

DP
type: SiteQuality
SIO_000300: 1.799697e6

GenotypeQuality
all individuals: 29876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2926
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5705
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534354190321294e-5
allele num: 65174
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 3.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.21e1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.781529e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5650
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2057
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64332
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039717196922437e-4
allele num: 9618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10530
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: 11420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.182e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.639e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

DP
type: SiteQuality
SIO_000300: 1.738397e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3832
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5625
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564553476437825e-5
allele num: 63916
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

VQSLOD
type: SiteQuality
SIO_000300: -2.276e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e0

DP
type: SiteQuality
SIO_000300: 1.697988e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

GenotypeQuality
all individuals: 755
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1088
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5686
bin: 9.75e1
variant carriers: 151

GenotypeQuality
all individuals: 7529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27518
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.269035532994924e-3
allele num: 788
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.527336860670194e-4
allele num: 11340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56563126252505e-5
allele num: 63872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

African
type: Population
allele count: 147
allele frequency: 1.537978656622724e-2
allele num: 9558
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.693232e6

QD
type: SiteQuality
SIO_000300: 1.46e1

GenotypeQuality
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 345
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 6851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5553
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.189909566872918e-4
allele num: 8404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.415e1

DP
type: SiteQuality
SIO_000300: 1.653473e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e0

FS
type: SiteQuality
SIO_000300: 5.472e0

VQSLOD
type: SiteQuality
SIO_000300: -1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e0

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

GenotypeQuality
all individuals: 653
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 1064
bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 9.475679090334807e-4
allele num: 9498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63462
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.612914e6

GenotypeQuality
all individuals: 841
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2867
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5536
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578880889225717e-5
allele num: 63336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 9.49e0

VQSLOD
type: SiteQuality
SIO_000300: -8.277e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.582708e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 1735
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 383
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
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variant carriers: 0

GenotypeQuality
all individuals: 21893
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variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
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variant carriers: 0

GenotypeQuality
all individuals: 5537
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1812
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.099384344766931e-4
allele num: 9096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
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: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.475679090334807e-5
allele num: 63320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 3.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.259e0

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

DP
type: SiteQuality
SIO_000300: 1.570078e6

GenotypeQuality
all individuals: 306
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3425
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5528
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 19553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
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variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.165959602355474e-5
allele num: 63172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9026
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.543299e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.011e0

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 5.822e1

FS
type: SiteQuality
SIO_000300: 9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

GenotypeQuality
all individuals: 1934
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2946
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
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variant carriers: 0

GenotypeQuality
all individuals: 3425
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
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variant carriers: 0

GenotypeQuality
all individuals: 5735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5528
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.431641923332595e-4
allele num: 9026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63172
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.822e1

MQRankSum
type: SiteQuality
SIO_000300: -1.011e0

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 1.543299e6

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3832
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2536
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 16962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
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variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.060220525869381e-4
allele num: 9432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.142e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 2.043e0

MQ
type: SiteQuality
SIO_000300: 6.009e1

DP
type: SiteQuality
SIO_000300: 1.511385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.113e0

GenotypeQuality
all individuals: 2216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 814
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3154
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variant carriers: 0

GenotypeQuality
all individuals: 14968
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variant carriers: 0

GenotypeQuality
all individuals: 752
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variant carriers: 0

GenotypeQuality
all individuals: 641
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variant carriers: 0

GenotypeQuality
all individuals: 4942
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variant carriers: 0

GenotypeQuality
all individuals: 2499
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variant carriers: 0

GenotypeQuality
all individuals: 5515
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589117721840834e-5
allele num: 62928
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 1.499811e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

QD
type: SiteQuality
SIO_000300: 1.463e1

GenotypeQuality
all individuals: 2368
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
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variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 9.25e1
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GenotypeQuality
all individuals: 596
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variant carriers: 0

GenotypeQuality
all individuals: 2968
bin: 7.5e0
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GenotypeQuality
all individuals: 1882
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GenotypeQuality
all individuals: 1144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
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variant carriers: 0

GenotypeQuality
all individuals: 4005
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5514
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590229629158451e-5
allele num: 62884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 1.499059e6

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

GenotypeQuality
all individuals: 1000
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5011
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4739
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5510
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.399818676337262e-4
allele num: 8824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62500
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.194e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 4.487e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.48167e6

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

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

GenotypeQuality
all individuals: 5528
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11722
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4590
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 954
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.597132765426968e-4
allele num: 19252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 8.83146e5

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.336e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 9.02175e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 7.38e0

GenotypeQuality
all individuals: 4423
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31447
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.103405826836274e-5
allele num: 24370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 9.293680297397769e-4
allele num: 2152
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

DP
type: SiteQuality
SIO_000300: 9.98655e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

QD
type: SiteQuality
SIO_000300: 1.339e1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

GenotypeQuality
all individuals: 2245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4584
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 274
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.992653517527749e-5
allele num: 25046
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

QD
type: SiteQuality
SIO_000300: 1.526e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

DP
type: SiteQuality
SIO_000300: 1.01076e6

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4581
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23861
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44204
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.821825469120058e-4
allele num: 10978
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4194
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.556e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.273482e6

MQ
type: SiteQuality
SIO_000300: 5.707e1

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23257
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4584
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 91
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.260602224432589e-5
allele num: 44236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.816793893129771e-4
allele num: 5240
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.109452736318408e-4
allele num: 6432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4228
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 1.273414e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.1e1

FS
type: SiteQuality
SIO_000300: 6.472e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

GenotypeQuality
all individuals: 941
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4583
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 284
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.282896263634253e-5
allele num: 43090
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 1.685e0

QD
type: SiteQuality
SIO_000300: 1.326e1

DP
type: SiteQuality
SIO_000300: 1.237273e6

GenotypeQuality
all individuals: 27833
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 733
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.820206304829847e-5
allele num: 41492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 1.201288e6

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

GenotypeQuality
all individuals: 817
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.906413485758574e-4
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 2.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.144561e6

FS
type: SiteQuality
SIO_000300: 1.441e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: -1.953e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
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variant carriers: 2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.458813253998581e-5
allele num: 36638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.792999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 9.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 1.083992e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.414999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

DP
type: SiteQuality
SIO_000300: 1.068067e6

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 4.825e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.803947958725886e-5
allele num: 35664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4012
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.059986e6

VQSLOD
type: SiteQuality
SIO_000300: -3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 2.955e1

QD
type: SiteQuality
SIO_000300: 2.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 1
allele frequency: 1.906214258482653e-4
allele num: 5246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3894
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.16169476869866e-4
allele num: 4626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.86582220439044e-5
allele num: 34894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.043413e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

FS
type: SiteQuality
SIO_000300: 3.441e0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.031e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.138731952291275e-4
allele num: 3186
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -9.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.39416e5

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.380071763731714e-4
allele num: 7246
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.96e1

DP
type: SiteQuality
SIO_000300: 8.42234e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23970
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2690
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Other
type: Population
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allele frequency: 0.0e0
allele num: 386
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2302
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South Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.91e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 7.122507122507123e-4
allele num: 1404
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19080
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 5748
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.68e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.24e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.398984990821726e-5
allele num: 18522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.329e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

QD
type: SiteQuality
SIO_000300: 1.304e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 7.6912e5

GenotypeQuality
all individuals: 381
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.54323499491353e-4
allele num: 3932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32150
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4667e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

DP
type: SiteQuality
SIO_000300: 9.58483e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

VQSLOD
type: SiteQuality
SIO_000300: -1.947e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 1.271617497456765e-3
allele num: 3932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3860
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 9.58483e5

FS
type: SiteQuality
SIO_000300: 1.4667e1

QD
type: SiteQuality
SIO_000300: 1.04e1

VQSLOD
type: SiteQuality
SIO_000300: -1.947e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 469
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variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4044
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.713e1

DP
type: SiteQuality
SIO_000300: 1.024452e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.795e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.259e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
all individuals: 473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
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variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12513
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.792360102758852e-5
allele num: 35812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.101e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

DP
type: SiteQuality
SIO_000300: 1.077079e6

QD
type: SiteQuality
SIO_000300: 1.248e1

MQ
type: SiteQuality
SIO_000300: 5.875e1

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

GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 5365
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.745200698080279e-4
allele num: 5730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42744
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.56e-1

FS
type: SiteQuality
SIO_000300: 2.078e0

QD
type: SiteQuality
SIO_000300: 1.632e1

VQSLOD
type: SiteQuality
SIO_000300: -5.34e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 1.206244e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.627074520013016e-4
allele num: 6146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.802e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 7.63e0

DP
type: SiteQuality
SIO_000300: 1.254203e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.385999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12858
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.209774981853375e-4
allele num: 8266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.392393e6

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 2.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.156e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.792692983399663e-5
allele num: 55782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 2.138e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.166e0

QD
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.414116e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.13e-1

GenotypeQuality
all individuals: 2910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.240081088908195e-5
allele num: 13812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.031530927143432e-5
allele num: 59624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.471315e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 1.935e0

GenotypeQuality
all individuals: 939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 994
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.197351374694113e-5
allele num: 13894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59934
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.474418e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

MQRankSum
type: SiteQuality
SIO_000300: -6.77e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 2.98e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5384
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.154243860404998e-4
allele num: 13926
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.44e0

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.21e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

DP
type: SiteQuality
SIO_000300: 1.475708e6

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658594838452863e-5
allele num: 60292
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.474079e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.602e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

MQ
type: SiteQuality
SIO_000300: 5.803e1

GenotypeQuality
all individuals: 1588
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5382
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 615
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.314660744472803e-5
allele num: 60338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.252e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 1.536e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 1.469928e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.733e0

VQSLOD
type: SiteQuality
SIO_000300: -2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 1545
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5384
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.633059166887768e-5
allele num: 60304
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.464164e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.218e1

GenotypeQuality
all individuals: 1548
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.318290416777277e-5
allele num: 60272
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.603e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.512e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.458935e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 826
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.036326942482341e-4
allele num: 9910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14052
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.449691e6

FS
type: SiteQuality
SIO_000300: 3.883e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
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variant carriers: 20

GenotypeQuality
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bin: 2.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3253

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 15

East Asian
type: Population
allele count: 1
allele frequency: 1.298701298701299e-4
allele num: 7700
num of homozygotes: 0

South Asian
type: Population
allele count: 727
allele frequency: 5.123326286116984e-2
allele num: 14190
num of homozygotes: 25

European (Finnish)
type: Population
allele count: 280
allele frequency: 4.533678756476684e-2
allele num: 6176
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 1553
allele frequency: 2.574772862921944e-2
allele num: 60316
num of homozygotes: 18

Latino
type: Population
allele count: 797
allele frequency: 8.003615183771842e-2
allele num: 9958
num of homozygotes: 17

African
type: Population
allele count: 45
allele frequency: 5.127620783956244e-3
allele num: 8776
num of homozygotes: 0

Other
type: Population
allele count: 19
allele frequency: 2.442159383033419e-2
allele num: 778
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

QD
type: SiteQuality
SIO_000300: 1.451e1

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.532492e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1510
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 27316
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GenotypeQuality
all individuals: 5732
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variant carriers: 3

GenotypeQuality
all individuals: 821
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60146
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.285191956124314e-4
allele num: 8752
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.067137809187279e-5
allele num: 14150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.0781e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 1.507706e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.051e1

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

GenotypeQuality
all individuals: 2659
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25295
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.296738631143776e-4
allele num: 8708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14120
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

VQSLOD
type: SiteQuality
SIO_000300: -2.225e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.575e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.557e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

DP
type: SiteQuality
SIO_000300: 1.498547e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

GenotypeQuality
all individuals: 9136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
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variant carriers: 0

GenotypeQuality
all individuals: 2654
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.339009649737888e-5
allele num: 59898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14112
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.613e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

DP
type: SiteQuality
SIO_000300: 1.498168e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 8.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.529e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 644
bin: 4.25e1
variant carriers: 201

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 63

GenotypeQuality
all individuals: 14768
bin: 6.25e1
variant carriers: 457

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 401

GenotypeQuality
all individuals: 426
bin: 9.25e1
variant carriers: 316

GenotypeQuality
all individuals: 526
bin: 5.75e1
variant carriers: 290

GenotypeQuality
all individuals: 931
bin: 2.75e1
variant carriers: 116

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 49

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 401

GenotypeQuality
all individuals: 1742
bin: 6.75e1
variant carriers: 449

GenotypeQuality
all individuals: 1067
bin: 3.25e1
variant carriers: 179

GenotypeQuality
all individuals: 1021
bin: 3.75e1
variant carriers: 290

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 254

European (Non-Finnish)
type: Population
allele count: 21402
allele frequency: 3.532615872177473e-1
allele num: 60584
num of homozygotes: 3401

South Asian
type: Population
allele count: 5350
allele frequency: 3.642925234917608e-1
allele num: 14686
num of homozygotes: 950

Other
type: Population
allele count: 277
allele frequency: 3.479899497487437e-1
allele num: 796
num of homozygotes: 42

African
type: Population
allele count: 2592
allele frequency: 2.920892494929006e-1
allele num: 8874
num of homozygotes: 365

Latino
type: Population
allele count: 2642
allele frequency: 2.725397152878069e-1
allele num: 9694
num of homozygotes: 291

European (Finnish)
type: Population
allele count: 2595
allele frequency: 4.163992297817715e-1
allele num: 6232
num of homozygotes: 525

East Asian
type: Population
allele count: 805
allele frequency: 1.088720584257506e-1
allele num: 7394
num of homozygotes: 39

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.796e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.075042e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 16230
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
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variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.831501831501832e-5
allele num: 54600
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.121e0

MQRankSum
type: SiteQuality
SIO_000300: -1.514e0

QD
type: SiteQuality
SIO_000300: 1.162e1

FS
type: SiteQuality
SIO_000300: 3.786e0

DP
type: SiteQuality
SIO_000300: 1.274055e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 3.683e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23217
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.895518993100311e-5
allele num: 52756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.254705144291092e-4
allele num: 7970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.22968e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.056e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.792e0

GenotypeQuality
all individuals: 19662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
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variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 6
allele frequency: 9.093664746892998e-4
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.882705344474224e-5
allele num: 12686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

FS
type: SiteQuality
SIO_000300: 5.214e0

DP
type: SiteQuality
SIO_000300: 1.211828e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 1.106e1

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
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variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17914
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47094
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7236
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.697216564833673e-4
allele num: 5892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.409e0

FS
type: SiteQuality
SIO_000300: 9.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

QD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.126389e6

GenotypeQuality
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
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variant carriers: 0

GenotypeQuality
all individuals: 688
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GenotypeQuality
all individuals: 27200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4788
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0674e1

DP
type: SiteQuality
SIO_000300: 1.072614e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: -1.918e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.605e0

GenotypeQuality
all individuals: 2438
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
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variant carriers: 1

GenotypeQuality
all individuals: 637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.26223871142883e-5
allele num: 44204
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.026e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.068307e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 639
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44204
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 2.101723413198823e-4
allele num: 4758
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.068307e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.368209160233032e-5
allele num: 42226
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

FS
type: SiteQuality
SIO_000300: 2.128e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.029076e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -2.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 4.48e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41208
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.958480219349785e-4
allele num: 5106
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

FS
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.010605e6

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 2240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.378e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

DP
type: SiteQuality
SIO_000300: 9.24912e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.523e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.746e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.434e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.459419576979833e-4
allele num: 4066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.649e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.344e0

VQSLOD
type: SiteQuality
SIO_000300: -2.728e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

QD
type: SiteQuality
SIO_000300: 3.221e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 8.86992e5

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33414
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 2.552322613578356e-3
allele num: 3918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5446
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.142e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.69977e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32188
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.022704029453876e-3
allele num: 9778
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.890359168241966e-4
allele num: 5290
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3564
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MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

QD
type: SiteQuality
SIO_000300: 1.427e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6404
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.140111787979652e-5
allele num: 31846
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.420054200542005e-4
allele num: 3690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0