3-46943294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943294
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943294
    reference: chr 3
allele count: 31
allele frequency: 2.564017733077483e-4
allele num: 120904
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1155C>T
  hgvsp: ENST00000313049.5:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1155C>T
  hgvsp: ENST00000427125.2:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1155C>T
  hgvsp: ENST00000430002.2:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1155C>T
  hgvsp: ENST00000418619.1:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1155C>T
  hgvsp: ENST00000449590.1:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*92C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu385Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

3-46943295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943295
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943295
    reference: chr 3
allele count: 2
allele frequency: 1.654287084980728e-5
allele num: 120898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1156G>A
  hgvsp: ENSP00000413774.2:p.Ala386Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1156G>A
  hgvsp: ENSP00000400977.2:p.Ala386Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1156G>A
  hgvsp: ENSP00000402723.1:p.Ala386Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*93G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1156G>A
  hgvsp: ENSP00000411424.1:p.Ala386Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1156G>A
  hgvsp: ENSP00000321999.4:p.Ala386Thr
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala386Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

3-46943307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943307
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943307
    reference: chr 3
allele count: 2
allele frequency: 1.655793621882969e-5
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1168C>T
  hgvsp: ENSP00000321999.4:p.Arg390Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*105C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1168C>T
  hgvsp: ENSP00000411424.1:p.Arg390Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1168C>T
  hgvsp: ENSP00000400977.2:p.Arg390Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1168C>T
  hgvsp: ENSP00000413774.2:p.Arg390Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1168C>T
  hgvsp: ENSP00000402723.1:p.Arg390Trp
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9714
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg390Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-46943308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943308
    reference: chr 3
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1169G>A
  hgvsp: ENSP00000321999.4:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1169G>A
  hgvsp: ENSP00000400977.2:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1169G>A
  hgvsp: ENSP00000413774.2:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1169G>A
  hgvsp: ENSP00000411424.1:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1169G>A
  hgvsp: ENSP00000402723.1:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg390Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

3-46943312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943312
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943312
    reference: chr 3
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1173G>A
  hgvsp: ENST00000313049.5:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*110G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1173G>A
  hgvsp: ENST00000418619.1:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1173G>A
  hgvsp: ENST00000427125.2:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1173G>A
  hgvsp: ENST00000449590.1:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1173G>A
  hgvsp: ENST00000430002.2:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9692
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu391Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-46943318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943318
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943318
    reference: chr 3
allele count: 3
allele frequency: 2.488800398208064e-5
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1179C>T
  hgvsp: ENST00000313049.5:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1179C>T
  hgvsp: ENST00000430002.2:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1179C>T
  hgvsp: ENST00000449590.1:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1179C>T
  hgvsp: ENST00000427125.2:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1179C>T
  hgvsp: ENST00000418619.1:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn393Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-46943319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943319
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943319
    reference: chr 3
allele count: 11
allele frequency: 9.128327690367124e-5
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1180G>A
  hgvsp: ENSP00000413774.2:p.Ala394Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1180G>A
  hgvsp: ENSP00000411424.1:p.Ala394Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1180G>A
  hgvsp: ENSP00000321999.4:p.Ala394Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1180G>A
  hgvsp: ENSP00000400977.2:p.Ala394Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1180G>A
  hgvsp: ENSP00000402723.1:p.Ala394Thr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*117G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala394Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

3-46943321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943321
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943321
    reference: chr 3
allele count: 11
allele frequency: 9.129388330981824e-5
allele num: 120490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1182C>T
  hgvsp: ENST00000449590.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1182C>T
  hgvsp: ENST00000418619.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1182C>T
  hgvsp: ENST00000313049.5:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1182C>T
  hgvsp: ENST00000427125.2:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1182C>T
  hgvsp: ENST00000430002.2:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26091
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4884
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala394Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-46943322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943322
    reference: chr 3
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1183G>A
  hgvsp: ENSP00000411424.1:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1183G>A
  hgvsp: ENSP00000413774.2:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1183G>A
  hgvsp: ENSP00000402723.1:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1183G>A
  hgvsp: ENSP00000321999.4:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*120G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1183G>A
  hgvsp: ENSP00000400977.2:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly395Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-46943324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943324
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943324
    reference: chr 3
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1185C>T
  hgvsp: ENST00000418619.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1185C>T
  hgvsp: ENST00000427125.2:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1185C>T
  hgvsp: ENST00000449590.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*122C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1185C>T
  hgvsp: ENST00000313049.5:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1185C>T
  hgvsp: ENST00000430002.2:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly395Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-46943325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943325
    reference: chr 3
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1186C>T
  hgvsp: ENSP00000402723.1:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1186C>T
  hgvsp: ENSP00000321999.4:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1186C>T
  hgvsp: ENSP00000400977.2:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1186C>T
  hgvsp: ENSP00000411424.1:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1186C>T
  hgvsp: ENSP00000413774.2:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*123C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg396Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-46943326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943326
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943326
    reference: chr 3
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1187G>A
  hgvsp: ENSP00000413774.2:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*124G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1187G>A
  hgvsp: ENSP00000321999.4:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1187G>A
  hgvsp: ENSP00000402723.1:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1187G>A
  hgvsp: ENSP00000400977.2:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1187G>A
  hgvsp: ENSP00000411424.1:p.Arg396Gln
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg396Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-46943329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943329
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943329
    reference: chr 3
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*127G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1190G>A
  hgvsp: ENSP00000402723.1:p.Cys397Tyr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1190G>A
  hgvsp: ENSP00000400977.2:p.Cys397Tyr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1190G>A
  hgvsp: ENSP00000411424.1:p.Cys397Tyr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1190G>A
  hgvsp: ENSP00000413774.2:p.Cys397Tyr
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1190G>A
  hgvsp: ENSP00000321999.4:p.Cys397Tyr
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys397Tyr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-46943334-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943334
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943334
    reference: chr 3
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1195A>G
  hgvsp: ENSP00000413774.2:p.Thr399Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1195A>G
  hgvsp: ENSP00000400977.2:p.Thr399Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*132A>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1195A>G
  hgvsp: ENSP00000321999.4:p.Thr399Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1195A>G
  hgvsp: ENSP00000411424.1:p.Thr399Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1195A>G
  hgvsp: ENSP00000402723.1:p.Thr399Ala
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33897
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr399Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-46943337-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943337
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943337
    reference: chr 3
allele count: 1
allele frequency: 8.340283569641367e-6
allele num: 119900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1198C>G
  hgvsp: ENSP00000400977.2:p.Arg400Gly
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1198C>G
  hgvsp: ENSP00000413774.2:p.Arg400Gly
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1198C>G
  hgvsp: ENSP00000411424.1:p.Arg400Gly
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1198C>G
  hgvsp: ENSP00000402723.1:p.Arg400Gly
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1198C>G
  hgvsp: ENSP00000321999.4:p.Arg400Gly
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*135C>G
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg400Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

3-46943337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943337
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943337
    reference: chr 3
allele count: 4
allele frequency: 3.336113427856547e-5
allele num: 119900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1198C>T
  hgvsp: ENSP00000402723.1:p.Arg400Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1198C>T
  hgvsp: ENSP00000400977.2:p.Arg400Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1198C>T
  hgvsp: ENSP00000321999.4:p.Arg400Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1198C>T
  hgvsp: ENSP00000413774.2:p.Arg400Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1198C>T
  hgvsp: ENSP00000411424.1:p.Arg400Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg400Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

3-46943338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943338
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 119852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1199G>A
  hgvsp: ENSP00000413774.2:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1199G>A
  hgvsp: ENSP00000411424.1:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1199G>A
  hgvsp: ENSP00000402723.1:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*136G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1199G>A
  hgvsp: ENSP00000400977.2:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1199G>A
  hgvsp: ENSP00000321999.4:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg400Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-46943339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943339
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943339
    reference: chr 3
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*137G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1200G>A
  hgvsp: ENST00000449590.1:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1200G>A
  hgvsp: ENST00000313049.5:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1200G>A
  hgvsp: ENST00000430002.2:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1200G>A
  hgvsp: ENST00000427125.2:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1200G>A
  hgvsp: ENST00000418619.1:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg400Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-46943349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943349
    reference: chr 3
allele count: 3
allele frequency: 2.522916491464133e-5
allele num: 118910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1210C>T
  hgvsp: ENSP00000411424.1:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1210C>T
  hgvsp: ENSP00000413774.2:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1210C>T
  hgvsp: ENSP00000402723.1:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*147C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1210C>T
  hgvsp: ENSP00000400977.2:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1210C>T
  hgvsp: ENSP00000321999.4:p.Arg404Trp
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg404Trp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-46943350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943350
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943350
    reference: chr 3
allele count: 3
allele frequency: 2.522874058127018e-5
allele num: 118912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211G>A
  hgvsp: ENSP00000411424.1:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211G>A
  hgvsp: ENSP00000402723.1:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211G>A
  hgvsp: ENSP00000413774.2:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211G>A
  hgvsp: ENSP00000321999.4:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211G>A
  hgvsp: ENSP00000400977.2:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12543
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg404Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-46943351-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943352
    reference: chr 3
allele count: 1
allele frequency: 8.409863087428936e-6
allele num: 118908
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211+2dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211+2dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211+2dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211+2dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148+2dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211+2dupT
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1211+2dupT
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-46943358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943358
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943358
    reference: chr 3
allele count: 1
allele frequency: 8.455372543714276e-6
allele num: 118268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211+8C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211+8C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148+8C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211+8C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211+8C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211+8C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
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genotype quality: GenotypeQuality
  all individuals: 30283
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1211+8C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-46943364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943364
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943364
    reference: chr 3
allele count: 1
allele frequency: 8.488531993277082e-6
allele num: 117806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211+14G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211+14G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211+14G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148+14G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211+14G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211+14G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4977
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7585
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genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-46943364-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943364
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943364
    reference: chr 3
allele count: 1
allele frequency: 8.488531993277082e-6
allele num: 117806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211+14G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211+14G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211+14G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211+14G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211+14G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148+14G>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11314
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-46943368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943368
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943368
    reference: chr 3
allele count: 1
allele frequency: 8.496032352891199e-6
allele num: 117702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211+18G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

3-46943387-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943387
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943387
    reference: chr 3
allele count: 1
allele frequency: 8.609111884018045e-6
allele num: 116156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211+37G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148+37G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211+37G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211+37G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211+37G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211+37G>C
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 910
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6995
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-46943388-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943388
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943388
    reference: chr 3
allele count: 6
allele frequency: 5.177323323841574e-5
allele num: 115890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211+38G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148+38G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211+38G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211+38G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211+38G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211+38G>C
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13690
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4813
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16613
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-46943401-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943401
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943401
    reference: chr 3
allele count: 2
allele frequency: 1.765193906550635e-5
allele num: 113302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1211+51C>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1211+51C>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*148+51C>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1211+51C>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1211+51C>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1211+51C>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6026
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

3-46943976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943976
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943976
    reference: chr 3
allele count: 1
allele frequency: 1.015723398204201e-5
allele num: 98452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-40G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-40G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-40G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-40G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-40G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-40G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

3-46943984-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943984
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943984
    reference: chr 3
allele count: 1
allele frequency: 1.012391674090872e-5
allele num: 98776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-32T>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-32T>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-32T>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-32T>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-32T>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-32T>G
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

3-46943986-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943986
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943986
    reference: chr 3
allele count: 15
allele frequency: 1.552377206962929e-4
allele num: 96626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-30G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-30G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-30G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-30G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-30G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-30G>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9904
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17891
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7741
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7187
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

3-46943991-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943991
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943991
    reference: chr 3
allele count: 1
allele frequency: 1.011061007421188e-5
allele num: 98906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-25T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-25T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-25T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-25T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-25T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-25T>C
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-46943995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943995
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943995
    reference: chr 3
allele count: 1
allele frequency: 1.000660435887686e-5
allele num: 99934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-21C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-21C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-21C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-21C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-21C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-21C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7828
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

3-46943996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943996
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943996
    reference: chr 3
allele count: 1
allele frequency: 9.997600575861792e-6
allele num: 100024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-20T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-20T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-20T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-20T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-20T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-20T>C
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-46943998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46943998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46943998
    reference: chr 3
allele count: 126
allele frequency: 1.253531776035656e-3
allele num: 100516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-18C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-18C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-18C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-18C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-18C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-18C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 9.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12659
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7891
  bin: 9.75e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11942
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

3-46944002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944002
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944002
    reference: chr 3
allele count: 1
allele frequency: 9.905109055250698e-6
allele num: 100958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-14C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-14C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-14C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-14C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-14C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-14C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12455
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

3-46944004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944004
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944004
    reference: chr 3
allele count: 1
allele frequency: 9.841938468200698e-6
allele num: 101606
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-12C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-12C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-12C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-12C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-12C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-12C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6354
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 330
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12578
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-46944005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944005
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944005
    reference: chr 3
allele count: 8
allele frequency: 7.86720163637794e-5
allele num: 101688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-11C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-11C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-11C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-11C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-11C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-11C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15155
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15366
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1259
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 325
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genotype quality: GenotypeQuality
  all individuals: 12477
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-46944006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944006
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944006
    reference: chr 3
allele count: 4
allele frequency: 3.953975722589064e-5
allele num: 101164
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-10G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-10G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-10G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-10G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-10G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-10G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15530
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

3-46944011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944011
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944011
    reference: chr 3
allele count: 1
allele frequency: 9.711189232233379e-6
allele num: 102974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*149-5C>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1212-5C>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1212-5C>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1212-5C>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1212-5C>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1212-5C>G
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1212-5C>G
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

3-46944019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944019
    reference: chr 3
allele count: 2
allele frequency: 1.90461679110163e-5
allele num: 105008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1215G>A
  hgvsp: ENST00000449590.1:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1215G>A
  hgvsp: ENST00000418619.1:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1215G>A
  hgvsp: ENST00000313049.5:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1215G>A
  hgvsp: ENST00000427125.2:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1215G>A
  hgvsp: ENST00000430002.2:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20182
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7849
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys405Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

3-46944033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944033
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944033
    reference: chr 3
allele count: 1
allele frequency: 9.207594423880816e-6
allele num: 108606
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1229C>T
  hgvsp: ENSP00000413774.2:p.Thr410Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1229C>T
  hgvsp: ENSP00000411424.1:p.Thr410Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1229C>T
  hgvsp: ENSP00000400977.2:p.Thr410Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1229C>T
  hgvsp: ENSP00000402723.1:p.Thr410Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1229C>T
  hgvsp: ENSP00000321999.4:p.Thr410Met
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr410Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-46944034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944034
    reference: chr 3
allele count: 21
allele frequency: 1.924063622370446e-4
allele num: 109144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*167G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1230G>A
  hgvsp: ENST00000430002.2:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1230G>A
  hgvsp: ENST00000313049.5:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1230G>A
  hgvsp: ENST00000418619.1:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1230G>A
  hgvsp: ENST00000427125.2:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1230G>A
  hgvsp: ENST00000449590.1:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24997
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr410Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-46944034-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944034
    reference: chr 3
allele count: 1
allele frequency: 9.162207725573555e-6
allele num: 109144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1230G>C
  hgvsp: ENST00000427125.2:c.1230G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1230G>C
  hgvsp: ENST00000313049.5:c.1230G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1230G>C
  hgvsp: ENST00000418619.1:c.1230G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1230G>C
  hgvsp: ENST00000430002.2:c.1230G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1230G>C
  hgvsp: ENST00000449590.1:c.1230G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*167G>C
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr410Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

3-46944038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944038
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944038
    reference: chr 3
allele count: 1
allele frequency: 9.046990066404907e-6
allele num: 110534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1234G>A
  hgvsp: ENSP00000321999.4:p.Val412Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1234G>A
  hgvsp: ENSP00000402723.1:p.Val412Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1234G>A
  hgvsp: ENSP00000413774.2:p.Val412Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1234G>A
  hgvsp: ENSP00000400977.2:p.Val412Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*171G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1234G>A
  hgvsp: ENSP00000411424.1:p.Val412Met
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val412Met
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

3-46944041-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944041
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944041
    reference: chr 3
allele count: 1
allele frequency: 8.978756262682494e-6
allele num: 111374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1237C>T
  hgvsp: ENSP00000402723.1:p.Leu413Phe
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1237C>T
  hgvsp: ENSP00000411424.1:p.Leu413Phe
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1237C>T
  hgvsp: ENSP00000413774.2:p.Leu413Phe
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1237C>T
  hgvsp: ENSP00000400977.2:p.Leu413Phe
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1237C>T
  hgvsp: ENSP00000321999.4:p.Leu413Phe
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27344
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu413Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-46944057-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944057
    reference: chr 3
allele count: 1
allele frequency: 8.656359827565313e-6
allele num: 115522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1253G>C
  hgvsp: ENSP00000321999.4:p.Gly418Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1253G>C
  hgvsp: ENSP00000400977.2:p.Gly418Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*190G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1253G>C
  hgvsp: ENSP00000413774.2:p.Gly418Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1253G>C
  hgvsp: ENSP00000411424.1:p.Gly418Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1253G>C
  hgvsp: ENSP00000402723.1:p.Gly418Ala
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30394
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly418Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

3-46944058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944058
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944058
    reference: chr 3
allele count: 1
allele frequency: 8.646928610957387e-6
allele num: 115648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1254C>T
  hgvsp: ENST00000430002.2:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1254C>T
  hgvsp: ENST00000418619.1:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1254C>T
  hgvsp: ENST00000427125.2:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1254C>T
  hgvsp: ENST00000313049.5:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1254C>T
  hgvsp: ENST00000449590.1:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly418Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

3-46944059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944059
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944059
    reference: chr 3
allele count: 6
allele frequency: 5.166267715993042e-5
allele num: 116138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1255G>A
  hgvsp: ENSP00000413774.2:p.Val419Ile
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1255G>A
  hgvsp: ENSP00000400977.2:p.Val419Ile
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1255G>A
  hgvsp: ENSP00000321999.4:p.Val419Ile
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1255G>A
  hgvsp: ENSP00000411424.1:p.Val419Ile
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*192G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1255G>A
  hgvsp: ENSP00000402723.1:p.Val419Ile
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30631
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val419Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

3-46944060-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944060
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944060
    reference: chr 3
allele count: 1
allele frequency: 8.58885167053165e-6
allele num: 116430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1256T>C
  hgvsp: ENSP00000402723.1:p.Val419Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1256T>C
  hgvsp: ENSP00000413774.2:p.Val419Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1256T>C
  hgvsp: ENSP00000400977.2:p.Val419Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1256T>C
  hgvsp: ENSP00000411424.1:p.Val419Ala
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*193T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1256T>C
  hgvsp: ENSP00000321999.4:p.Val419Ala
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30836
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val419Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-46944061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944061
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944061
    reference: chr 3
allele count: 1
allele frequency: 8.569861511037982e-6
allele num: 116688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1257C>T
  hgvsp: ENST00000449590.1:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1257C>T
  hgvsp: ENST00000430002.2:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*194C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1257C>T
  hgvsp: ENST00000313049.5:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1257C>T
  hgvsp: ENST00000418619.1:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1257C>T
  hgvsp: ENST00000427125.2:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31049
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val419Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-46944073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944073
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944073
    reference: chr 3
allele count: 1
allele frequency: 8.43355204344966e-6
allele num: 118574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1269C>T
  hgvsp: ENST00000427125.2:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1269C>T
  hgvsp: ENST00000313049.5:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1269C>T
  hgvsp: ENST00000430002.2:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1269C>T
  hgvsp: ENST00000449590.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1269C>T
  hgvsp: ENST00000418619.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val423Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

3-46944088-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944088
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944088
    reference: chr 3
allele count: 1
allele frequency: 8.345155637152633e-6
allele num: 119830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1284A>G
  hgvsp: ENST00000430002.2:c.1284A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1284A>G
  hgvsp: ENST00000427125.2:c.1284A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1284A>G
  hgvsp: ENST00000313049.5:c.1284A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1284A>G
  hgvsp: ENST00000449590.1:c.1284A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*221A>G
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1284A>G
  hgvsp: ENST00000418619.1:c.1284A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8165
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro428Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

3-46944094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944094
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944094
    reference: chr 3
allele count: 1
allele frequency: 8.323345318950592e-6
allele num: 120144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*227C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1290C>T
  hgvsp: ENST00000418619.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1290C>T
  hgvsp: ENST00000427125.2:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1290C>T
  hgvsp: ENST00000313049.5:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1290C>T
  hgvsp: ENST00000430002.2:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1290C>T
  hgvsp: ENST00000449590.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.6C>T
  hgvsp: ENST00000422115.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr430Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

3-46944095-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944095
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944095
    reference: chr 3
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1291G>A
  hgvsp: ENSP00000411424.1:p.Glu431Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1291G>A
  hgvsp: ENSP00000402723.1:p.Glu431Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.7G>A
  hgvsp: ENSP00000396176.1:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1291G>A
  hgvsp: ENSP00000321999.4:p.Glu431Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1291G>A
  hgvsp: ENSP00000413774.2:p.Glu431Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1291G>A
  hgvsp: ENSP00000400977.2:p.Glu431Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*228G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu431Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-46944108-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944108
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944108
    reference: chr 3
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1304C>A
  hgvsp: ENSP00000321999.4:p.Thr435Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.20C>A
  hgvsp: ENSP00000396176.1:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1304C>A
  hgvsp: ENSP00000411424.1:p.Thr435Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1304C>A
  hgvsp: ENSP00000402723.1:p.Thr435Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1304C>A
  hgvsp: ENSP00000400977.2:p.Thr435Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1304C>A
  hgvsp: ENSP00000413774.2:p.Thr435Lys
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*241C>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr435Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

3-46944108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944108
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944108
    reference: chr 3
allele count: 7
allele frequency: 5.797677615994964e-5
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1304C>T
  hgvsp: ENSP00000411424.1:p.Thr435Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1304C>T
  hgvsp: ENSP00000321999.4:p.Thr435Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.20C>T
  hgvsp: ENSP00000396176.1:p.Thr7Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1304C>T
  hgvsp: ENSP00000402723.1:p.Thr435Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1304C>T
  hgvsp: ENSP00000400977.2:p.Thr435Met
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1304C>T
  hgvsp: ENSP00000413774.2:p.Thr435Met
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr435Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-46944109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944109
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944109
    reference: chr 3
allele count: 225
allele frequency: 1.862613619430785e-3
allele num: 120798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1305G>A
  hgvsp: ENST00000418619.1:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.21G>A
  hgvsp: ENST00000422115.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1305G>A
  hgvsp: ENST00000313049.5:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1305G>A
  hgvsp: ENST00000449590.1:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1305G>A
  hgvsp: ENST00000430002.2:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1305G>A
  hgvsp: ENST00000427125.2:c.1305G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*242G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31430
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 33831
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr435Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

3-46944109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944109
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944109
    reference: chr 3
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*242G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1305G>C
  hgvsp: ENST00000313049.5:c.1305G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1305G>C
  hgvsp: ENST00000430002.2:c.1305G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1305G>C
  hgvsp: ENST00000418619.1:c.1305G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1305G>C
  hgvsp: ENST00000427125.2:c.1305G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1305G>C
  hgvsp: ENST00000449590.1:c.1305G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.21G>C
  hgvsp: ENST00000422115.1:c.21G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr435Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

3-46944113-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944113
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944113
    reference: chr 3
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1309T>C
  hgvsp: ENSP00000402723.1:p.Trp437Arg
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.25T>C
  hgvsp: ENSP00000396176.1:p.Trp9Arg
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1309T>C
  hgvsp: ENSP00000411424.1:p.Trp437Arg
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1309T>C
  hgvsp: ENSP00000400977.2:p.Trp437Arg
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1309T>C
  hgvsp: ENSP00000413774.2:p.Trp437Arg
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*246T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1309T>C
  hgvsp: ENSP00000321999.4:p.Trp437Arg
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp437Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-46944132-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944132
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944132
    reference: chr 3
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1328A>C
  hgvsp: ENSP00000402723.1:p.Tyr443Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1328A>C
  hgvsp: ENSP00000411424.1:p.Tyr443Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1328A>C
  hgvsp: ENSP00000413774.2:p.Tyr443Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1328A>C
  hgvsp: ENSP00000321999.4:p.Tyr443Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.44A>C
  hgvsp: ENSP00000396176.1:p.Tyr15Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1328A>C
  hgvsp: ENSP00000400977.2:p.Tyr443Ser
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*265A>C
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr443Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

3-46944161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944161
    reference: chr 3
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+4C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+4C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+4C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+4C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+4C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+4C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+4C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1353+4C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-46944162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944162
    reference: chr 3
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+5G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+5G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+5G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+5G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+5G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+5G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+5G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8447
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1353+5G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-46944162-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944162
    reference: chr 3
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+5G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+5G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+5G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+5G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+5G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+5G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+5G>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1353+5G>T
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: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

3-46944168-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944168
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944169
    reference: chr 3
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+12dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+12dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+12dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+12dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+12dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+12dupT
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+12dupT
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33572
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-46944174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944174
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944174
    reference: chr 3
allele count: 48
allele frequency: 3.959285348994507e-4
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+17C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+17C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+17C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+17C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+17C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+17C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+17C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13795
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

3-46944175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944175
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944175
    reference: chr 3
allele count: 5
allele frequency: 4.125072188763303e-5
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+18G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+18G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8506
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33477
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-46944176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944176
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944176
    reference: chr 3
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+19G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+19G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+19G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+19G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+19G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+19G>A
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+19G>A
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8508
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-46944183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944183
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944183
    reference: chr 3
allele count: 5
allele frequency: 4.126161514466322e-5
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+26C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+26C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+26C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+26C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+26C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+26C>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+26C>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

3-46944187-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944187
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944187
    reference: chr 3
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+30G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+30G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+30G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+30G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+30G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+30G>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+30G>C
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-46944188-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944188
    reference: chr 3
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+31G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+31G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+31G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+31G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+31G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+31G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+31G>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-46944189-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944189
    reference: chr 3
allele count: 2
allele frequency: 1.651145895251304e-5
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+32G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+32G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+32G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+32G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+32G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+32G>T
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+32G>T
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-46944190-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46944190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46944190
    reference: chr 3
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000389811
  ensembl transcript: ENST00000428220
  gene symbol: PTH1R
  hgvsc: ENST00000428220.1:c.*290+33T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000400977
  ensembl transcript: ENST00000427125
  gene symbol: PTH1R
  hgvsc: ENST00000427125.2:c.1353+33T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000413774
  ensembl transcript: ENST00000430002
  gene symbol: PTH1R
  hgvsc: ENST00000430002.2:c.1353+33T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000396176
  ensembl transcript: ENST00000422115
  gene symbol: PTH1R
  hgvsc: ENST00000422115.1:c.69+33T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000321999
  ensembl transcript: ENST00000313049
  gene symbol: PTH1R
  hgvsc: ENST00000313049.5:c.1353+33T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000402723
  ensembl transcript: ENST00000449590
  gene symbol: PTH1R
  hgvsc: ENST00000449590.1:c.1353+33T>C
  variant of: http://identifiers.org/hgnc/9608
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160801
  ensembl protein: ENSP00000411424
  ensembl transcript: ENST00000418619
  gene symbol: PTH1R
  hgvsc: ENST00000418619.1:c.1353+33T>C
  variant of: http://identifiers.org/hgnc/9608
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4924
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.054470956857074e-4
allele num: 66384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 1.989963661533137e-3
allele num: 11558
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

DP
type: SiteQuality
SIO_000300: 1.80593e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

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

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4894
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01313727853441e-5
allele num: 66376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

DP
type: SiteQuality
SIO_000300: 1.804831e6

FS
type: SiteQuality
SIO_000300: 3.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4889
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.80202e6

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9716
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1838
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.487e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

FS
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

DP
type: SiteQuality
SIO_000300: 1.801743e6

QD
type: SiteQuality
SIO_000300: 2.479e1

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.798329e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.008e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.099e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

MQ
type: SiteQuality
SIO_000300: 5.741e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.13e-1

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.533639605875597e-5
allele num: 66172
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 9.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 1.794922e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4889
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 34880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.66298793577843e-4
allele num: 66146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 1.858e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e0

DP
type: SiteQuality
SIO_000300: 1.794797e6

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

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

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.948178453146308e-4
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.058457072005323e-4
allele num: 66134
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.79395e6

QD
type: SiteQuality
SIO_000300: 1.187e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 1.227e0

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 991
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.671e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.79333e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
all individuals: 4873
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3024
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.807e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 3.703e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.792162e6

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.18e-1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9613
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
SIO_000300: 1.790766e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
all individuals: 9609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2780
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

DP
type: SiteQuality
SIO_000300: 1.790661e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.359e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

GenotypeQuality
all individuals: 9567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 984
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.355e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

FS
type: SiteQuality
SIO_000300: 1.805e0

QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.874e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.814e0

DP
type: SiteQuality
SIO_000300: 1.785353e6

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1819
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variant carriers: 0

GenotypeQuality
all individuals: 4870
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variant carriers: 1

GenotypeQuality
all individuals: 389
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GenotypeQuality
all individuals: 1610
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variant carriers: 0

GenotypeQuality
all individuals: 148
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.809691975671964e-5
allele num: 10194
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.227e0

FS
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: -1.761e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.445e0

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.777695e6

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 751
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 434
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GenotypeQuality
all individuals: 9426
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 983
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GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 2.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.591e0

QD
type: SiteQuality
SIO_000300: 1.26e1

MQRankSum
type: SiteQuality
SIO_000300: -3.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.775378e6

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

GenotypeQuality
all individuals: 434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 9426
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214624073849144e-4
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519941634241245e-5
allele num: 65792
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.591e0

MQRankSum
type: SiteQuality
SIO_000300: -3.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.775378e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.26e1

FS
type: SiteQuality
SIO_000300: 2.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

GenotypeQuality
all individuals: 443
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 9.75e1
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 750
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variant carriers: 0

GenotypeQuality
all individuals: 447
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 8.25e1
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GenotypeQuality
all individuals: 2734
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.7739e6

QD
type: SiteQuality
SIO_000300: 2.003e1

GenotypeQuality
all individuals: 9408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 478
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GenotypeQuality
all individuals: 4870
bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.014e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 8.282e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.235e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

QD
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 1.771725e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
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GenotypeQuality
all individuals: 1784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 203
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GenotypeQuality
all individuals: 2937
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.974067424695791e-5
allele num: 10026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.066261920093214e-5
allele num: 65226
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.749367e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 1.863e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
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GenotypeQuality
all individuals: 9077
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GenotypeQuality
all individuals: 206
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GenotypeQuality
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GenotypeQuality
all individuals: 969
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GenotypeQuality
all individuals: 215
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GenotypeQuality
all individuals: 851
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2929
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532895947023116e-5
allele num: 65236
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.227e0

FS
type: SiteQuality
SIO_000300: 1.877e0

VQSLOD
type: SiteQuality
SIO_000300: -3.132e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.747545e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 5.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
all individuals: 782
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 216
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 9082
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532801961986511e-5
allele num: 65240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.384e1

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.998e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 3.717e0

DP
type: SiteQuality
SIO_000300: 1.74445e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.797e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.28e-1

GenotypeQuality
all individuals: 791
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.785802143735723e-5
allele num: 11382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0222e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

DP
type: SiteQuality
SIO_000300: 1.721056e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.092e1

GenotypeQuality
all individuals: 4839
bin: 9.75e1
variant carriers: 1

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: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 3.25e1
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GenotypeQuality
all individuals: 1159
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547748026621266e-5
allele num: 64610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

DP
type: SiteQuality
SIO_000300: 1.68168e6

FS
type: SiteQuality
SIO_000300: 1.383e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.578e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.18e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29228
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.013993104846887e-4
allele num: 9862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64610
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.383e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.578e0

QD
type: SiteQuality
SIO_000300: 9.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.68168e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
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variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.01419878296146e-4
allele num: 9860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.199e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 7.3e0

DP
type: SiteQuality
SIO_000300: 1.661368e6

VQSLOD
type: SiteQuality
SIO_000300: -7.429e-1

GenotypeQuality
all individuals: 4983
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.493691e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.824e1

VQSLOD
type: SiteQuality
SIO_000300: -2.343e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.539e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
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variant carriers: 0

GenotypeQuality
all individuals: 1509
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GenotypeQuality
all individuals: 4814
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variant carriers: 0

GenotypeQuality
all individuals: 4774
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.141156867412521e-4
allele num: 8402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

DP
type: SiteQuality
SIO_000300: 1.478947e6

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 4.472e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.567e0

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 604
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
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: 6018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.227368081329676e-5
allele num: 61970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.942e0

FS
type: SiteQuality
SIO_000300: 1.2649e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.331e1

DP
type: SiteQuality
SIO_000300: 1.426732e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7821
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variant carriers: 1

GenotypeQuality
all individuals: 5699
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.404889013767912e-4
allele num: 7118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.929e0

DP
type: SiteQuality
SIO_000300: 1.543536e6

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.516e1

FS
type: SiteQuality
SIO_000300: 2.4266e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.606e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.196e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5528
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variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.798237727027513e-5
allele num: 55610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14026
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.072e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

DP
type: SiteQuality
SIO_000300: 1.55737e6

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

VQSLOD
type: SiteQuality
SIO_000300: -7.696e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.430615164520744e-4
allele num: 6990
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.141262997717474e-3
allele num: 7886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.50357732526142e-5
allele num: 54510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 5.186721991701245e-4
allele num: 3856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.557964e6

FS
type: SiteQuality
SIO_000300: 1.3662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.445e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.447e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7122
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 715
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7827
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GenotypeQuality
all individuals: 1912
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.796041524480046e-5
allele num: 55678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.8e-1

DP
type: SiteQuality
SIO_000300: 1.569045e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.584e0

FS
type: SiteQuality
SIO_000300: 4.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

GenotypeQuality
all individuals: 7096
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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
all individuals: 2006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.386962552011096e-4
allele num: 7210
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.018e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.583155e6

VQSLOD
type: SiteQuality
SIO_000300: -3.079e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

GenotypeQuality
all individuals: 825
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7828
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.035317292809905e-5
allele num: 14214
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 9.6e0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

DP
type: SiteQuality
SIO_000300: 1.587566e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 156
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6873
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1177
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 470
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.41597932670183e-4
allele num: 56498
num of homozygotes: 0

South Asian
type: Population
allele count: 115
allele frequency: 8.069042941341566e-3
allele num: 14252
num of homozygotes: 2

Latino
type: Population
allele count: 3
allele frequency: 3.262997607135088e-4
allele num: 9194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

DP
type: SiteQuality
SIO_000300: 1.600008e6

QD
type: SiteQuality
SIO_000300: 1.174e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

FS
type: SiteQuality
SIO_000300: 1.252e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

GenotypeQuality
all individuals: 12503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5270
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variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7830
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 649
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56710
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.377031120903333e-4
allele num: 7262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 1.613668e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 1.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

QD
type: SiteQuality
SIO_000300: 1.057e1

GenotypeQuality
all individuals: 1298
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
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variant carriers: 0

GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 7831
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variant carriers: 1

GenotypeQuality
all individuals: 1296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.753278631040045e-5
allele num: 57036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14360
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.625674e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 569
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
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variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14963
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.225747706100721e-4
allele num: 57108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.192748091603053e-4
allele num: 8384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7334
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 1.277e1

DP
type: SiteQuality
SIO_000300: 1.631186e6

FS
type: SiteQuality
SIO_000300: 2.248e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7836
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 1216
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6105
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variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 0

GenotypeQuality
all individuals: 524
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.078050884001725e-4
allele num: 9276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.198465963566635e-4
allele num: 8344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.522118906734291e-5
allele num: 56784
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.636536e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 3.845e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

QD
type: SiteQuality
SIO_000300: 5.59e0

VQSLOD
type: SiteQuality
SIO_000300: -3.513e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11627
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GenotypeQuality
all individuals: 388
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variant carriers: 0

GenotypeQuality
all individuals: 931
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variant carriers: 0

GenotypeQuality
all individuals: 590
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variant carriers: 0

GenotypeQuality
all individuals: 4598
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variant carriers: 0

GenotypeQuality
all individuals: 16240
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variant carriers: 0

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 7839
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.732021615629763e-5
allele num: 57736
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.664439e6

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.09e0

GenotypeQuality
all individuals: 10653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
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GenotypeQuality
all individuals: 3910
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GenotypeQuality
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GenotypeQuality
all individuals: 72
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 992
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GenotypeQuality
all individuals: 1194
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.405414609228674e-5
allele num: 58730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

QD
type: SiteQuality
SIO_000300: 8.07e0

DP
type: SiteQuality
SIO_000300: 1.707256e6

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.643e0

FS
type: SiteQuality
SIO_000300: 1.0973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
all individuals: 3290
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variant carriers: 0

GenotypeQuality
all individuals: 8309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
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GenotypeQuality
all individuals: 383
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 333
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GenotypeQuality
all individuals: 1406
bin: 7.75e1
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GenotypeQuality
all individuals: 732
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GenotypeQuality
all individuals: 7863
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65016501650165e-5
allele num: 60600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.394e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

FS
type: SiteQuality
SIO_000300: 4.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.786565e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7883
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 2673
bin: 2.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 11
allele frequency: 2.126836813611756e-3
allele num: 5172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.639224538573895e-5
allele num: 15062
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.478609449957285e-4
allele num: 60868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.798429e6

QD
type: SiteQuality
SIO_000300: 1.189e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.142e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 25001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.642899388841427e-5
allele num: 60868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.189e1

DP
type: SiteQuality
SIO_000300: 1.798429e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7877
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.572893387669252e-5
allele num: 15214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.743e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.824062e6

QD
type: SiteQuality
SIO_000300: 5.64e0

GenotypeQuality
all individuals: 1400
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.505703422053231e-5
allele num: 10520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.42e0

VQSLOD
type: SiteQuality
SIO_000300: -3.856e-1

DP
type: SiteQuality
SIO_000300: 1.842958e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

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

GenotypeQuality
all individuals: 1382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.717032967032967e-4
allele num: 5824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.283e1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.93174e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.993e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: -1.843e0

MQ
type: SiteQuality
SIO_000300: 5.635e1

FS
type: SiteQuality
SIO_000300: 6.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.162e0

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7984
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.032417922775139e-4
allele num: 9686
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

FS
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.938687e6

GenotypeQuality
all individuals: 917
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8017
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5986
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.658674451829306e-5
allele num: 64396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.062896501721951e-5
allele num: 11034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.369668246445498e-4
allele num: 8440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15802
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.402e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 1.948419e6

GenotypeQuality
all individuals: 2488
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6104
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549426712116517e-5
allele num: 64540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

DP
type: SiteQuality
SIO_000300: 1.95256e6

QD
type: SiteQuality
SIO_000300: 6.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: -1.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 619
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546551190844417e-5
allele num: 64660
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.617e-1

FS
type: SiteQuality
SIO_000300: 4.684e0

DP
type: SiteQuality
SIO_000300: 1.957916e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.165e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

GenotypeQuality
all individuals: 1703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6604
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8086
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2759
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526531110704036e-5
allele num: 65508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 1.994745e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.688e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.318e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.023639e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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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variant carriers: 1

GenotypeQuality
all individuals: 2026
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variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

FS
type: SiteQuality
SIO_000300: 1.906e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.032251e6

GenotypeQuality
all individuals: 2047
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 154
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.864e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.547e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 2.035277e6

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3039
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 3245
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.487e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 2.046332e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 8237
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variant carriers: 7

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 3245
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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: 2151
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variant carriers: 0

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.027715085311908e-5
allele num: 66462
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

FS
type: SiteQuality
SIO_000300: 2.487e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 2.046332e6

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 224

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 827
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variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.908103916246607e-4
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 112
allele frequency: 1.684666526277789e-3
allele num: 66482
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.738223535546671e-3
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 87
allele frequency: 5.284256559766764e-3
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.265e1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.055048e6

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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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-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
all individuals: 905
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.054617e6

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.824e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.372e1

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 171
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GenotypeQuality
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GenotypeQuality
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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: 33852
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
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South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.03e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.634e0

QD
type: SiteQuality
SIO_000300: 1.747e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 2.062896e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8442
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 961
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.926411096127914e-4
allele num: 10382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.831e0

QD
type: SiteQuality
SIO_000300: 1.091e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.06948e6

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

FS
type: SiteQuality
SIO_000300: 1.429e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.213e0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 960
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 11560
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.069826e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.504e1

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

GenotypeQuality
all individuals: 960
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.097e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.504e1

DP
type: SiteQuality
SIO_000300: 2.069826e6

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7463
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3181
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.070372e6

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 1.706e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.469e0

MQ
type: SiteQuality
SIO_000300: 6.09e1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7452
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8502
bin: 9.75e1
variant carriers: 48

African
type: Population
allele count: 46
allele frequency: 4.433307632999229e-3
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.073201e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.783e0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.004743747560573e-5
allele num: 66614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

DP
type: SiteQuality
SIO_000300: 2.073321e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

QD
type: SiteQuality
SIO_000300: 1.348e1

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

GenotypeQuality
all individuals: 3472
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 9.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 3.272e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.073399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.249e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 3469
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33473
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8514
bin: 9.75e1
variant carriers: 5

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.326756663205261e-4
allele num: 11556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.133e0

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 2.073541e6

QD
type: SiteQuality
SIO_000300: 1.249e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8517
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 985
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.464e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.486e0

DP
type: SiteQuality
SIO_000300: 2.072784e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.532e1

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8519
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.668e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.146e0

QD
type: SiteQuality
SIO_000300: 2.099e1

FS
type: SiteQuality
SIO_000300: 4.977e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

DP
type: SiteQuality
SIO_000300: 2.072955e6

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

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

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

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8522
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 986
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.822e0

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

QD
type: SiteQuality
SIO_000300: 1.418e1

DP
type: SiteQuality
SIO_000300: 2.073189e6