11-61553565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553565
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553565
    reference: chr 11
allele count: 3
allele frequency: 2.479297862845242e-5
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.3406G>A
  hgvsp: ENSP00000278836.4:p.Ala1136Thr
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.1564G>A
  hgvsp: ENSP00000374253.4:p.Ala522Thr
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3692C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.3286G>A
  hgvsp: ENSP00000265460.5:p.Ala1096Thr
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala1136Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-61553574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553574
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553574
    reference: chr 11
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.3295G>A
  hgvsp: ENSP00000265460.5:p.Ala1099Thr
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.1573G>A
  hgvsp: ENSP00000374253.4:p.Ala525Thr
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3683C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.3415G>A
  hgvsp: ENSP00000278836.4:p.Ala1139Thr
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1139Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-61553580-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553580
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553580
    reference: chr 11
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.3421G>C
  hgvsp: ENSP00000278836.4:p.Asp1141His
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.1579G>C
  hgvsp: ENSP00000374253.4:p.Asp527His
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.3301G>C
  hgvsp: ENSP00000265460.5:p.Asp1101His
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3677C>G
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1141His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

11-61553582-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553582
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553582
    reference: chr 11
allele count: 4
allele frequency: 3.30114714863415e-5
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.1581C>G
  hgvsp: ENSP00000374253.4:p.Asp527Glu
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3675G>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.3303C>G
  hgvsp: ENSP00000265460.5:p.Asp1101Glu
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.3423C>G
  hgvsp: ENSP00000278836.4:p.Asp1141Glu
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1141Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

11-61553585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553585
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553585
    reference: chr 11
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.3426C>T
  hgvsp: ENST00000278836.5:c.3426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.1584C>T
  hgvsp: ENST00000389602.4:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3672G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.3306C>T
  hgvsp: ENST00000265460.5:c.3306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr1142Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

11-61553604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553604
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553604
    reference: chr 11
allele count: 5
allele frequency: 4.131821637523551e-5
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3653G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.1603C>T
  hgvsp: ENST00000389602.4:c.1603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.3445C>T
  hgvsp: ENST00000278836.5:c.3445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.3325C>T
  hgvsp: ENST00000265460.5:c.3325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1149Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-61553612-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553612
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553612
    reference: chr 11
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3645G>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.3453C>A
  hgvsp: ENSP00000278836.4:p.Asp1151Glu
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.1611C>A
  hgvsp: ENSP00000374253.4:p.Asp537Glu
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.3333C>A
  hgvsp: ENSP00000265460.5:p.Asp1111Glu
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp1151Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

11-61553629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553629
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553629
    reference: chr 11
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*14G>A
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3628C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*14G>A
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*14G>A
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

11-61553637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553637
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553637
    reference: chr 11
allele count: 2
allele frequency: 1.678471919164792e-5
allele num: 119156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*22C>T
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*22C>T
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*22C>T
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3620G>A
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-61553639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553639
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553639
    reference: chr 11
allele count: 1
allele frequency: 8.438818565400844e-6
allele num: 118500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*24C>T
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*24C>T
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3618G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*24C>T
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/11-61553642-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553642
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553642
    reference: chr 11
allele count: 1
allele frequency: 8.471560969824299e-6
allele num: 118042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*27C>A
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*27C>A
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*27C>A
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3615G>T
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24024
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

11-61553649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553649
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553649
    reference: chr 11
allele count: 1
allele frequency: 8.636921110362578e-6
allele num: 115782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*34C>T
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*34C>T
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*34C>T
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3608G>A
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

11-61553655-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553655
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553655
    reference: chr 11
allele count: 2
allele frequency: 1.738042269187987e-5
allele num: 115072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*40T>G
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*40T>G
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3602A>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*40T>G
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

11-61553656-GCCCAGGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553656
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553648
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 114614
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*45_*52delAGGCACCC
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*45_*52delAGGCACCC
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*45_*52delAGGCACCC
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5052
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: GCCCAGGCA
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/11-61553664-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553664
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553665
    reference: chr 11
allele count: 3
allele frequency: 3.24696408857718e-5
allele num: 92394
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*55dupC
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*55dupC
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3592dupG
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*55dupC
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6474
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-61553664-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61553664
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61553664
    reference: chr 11
allele count: 436
allele frequency: 4.718921142065502e-3
allele num: 92394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000374253
  ensembl transcript: ENST00000389602
  gene symbol: MYRF
  hgvsc: ENST00000389602.4:c.*49A>C
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000265460
  ensembl transcript: ENST00000265460
  gene symbol: MYRF
  hgvsc: ENST00000265460.5:c.*49A>C
  variant of: http://identifiers.org/hgnc/1181
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+3593T>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000124920
  ensembl protein: ENSP00000278836
  ensembl transcript: ENST00000278836
  gene symbol: MYRF
  hgvsc: ENST00000278836.5:c.*49A>C
  variant of: http://identifiers.org/hgnc/1181
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 1.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 2.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 2.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 1.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 4.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 2.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 5.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 2.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 1.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 4.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 5.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 5179
  bin: 3.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 9.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 6474
  bin: 2.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.75e1
  variant carriers: 13
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-61557216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557216
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557216
    reference: chr 11
allele count: 1
allele frequency: 9.967108541812021e-6
allele num: 100330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+41A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+41A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+41A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+41A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-509A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*51A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+41A>G
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17330
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6623
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5305
  bin: 4.75e1
  variant carriers: 0
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: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

11-61557218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557218
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557218
    reference: chr 11
allele count: 1
allele frequency: 9.991008092716555e-6
allele num: 100090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+39G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+39G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-511G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+39G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*49G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+39G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+39G>A
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17311
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

11-61557220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557220
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557220
    reference: chr 11
allele count: 1
allele frequency: 9.952031209569873e-6
allele num: 100482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+37A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+37A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*47A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+37A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+37A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+37A>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-513A>G
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-61557227-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557227
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557227
    reference: chr 11
allele count: 1
allele frequency: 9.92417927037434e-6
allele num: 100764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+30G>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*40G>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+30G>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+30G>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+30G>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+30G>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-520G>T
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16964
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6705
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-61557228-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557228
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557228
    reference: chr 11
allele count: 2
allele frequency: 1.978239366963403e-5
allele num: 101100
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+29A>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-521A>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+29A>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*39A>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+29A>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+29A>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+29A>C
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

11-61557231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557231
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557231
    reference: chr 11
allele count: 7
allele frequency: 6.939350080298193e-5
allele num: 100874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*36G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+26G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+26G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+26G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-524G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+26G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+26G>A
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16349
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16748
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16566
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

11-61557236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557236
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557236
    reference: chr 11
allele count: 6
allele frequency: 5.889050292489498e-5
allele num: 101884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+21G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*31G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+21G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+21G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+21G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-529G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+21G>A
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20228
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

11-61557237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557237
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557237
    reference: chr 11
allele count: 1
allele frequency: 9.804690563965801e-6
allele num: 101992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+20G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+20G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-530G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+20G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*30G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+20G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+20G>A
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14708
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

11-61557238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557238
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557238
    reference: chr 11
allele count: 43
allele frequency: 4.197251288458535e-4
allele num: 102448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*29T>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+19T>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-531T>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+19T>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+19T>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+19T>C
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+19T>C
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20910
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

11-61557247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557247
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557247
    reference: chr 11
allele count: 1
allele frequency: 9.661835748792271e-6
allele num: 103500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*20G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*239+10G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.248+10G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*10+10G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-540G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*287+10G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*10+10G>A
  variant of: http://identifiers.org/hgnc/1164
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

11-61557263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557263
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557263
    reference: chr 11
allele count: 1
allele frequency: 9.322966194924577e-6
allele num: 107262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.242C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-556C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*281C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*233C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.*4C>T
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

11-61557272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557272
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557272
    reference: chr 11
allele count: 3
allele frequency: 2.733485193621868e-5
allele num: 109750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*272G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.235G>A
  hgvsp: ENSP00000257262.8:p.Val79Met
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.235G>A
  hgvsp: ENSP00000443216.1:p.Val79Met
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*224G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-565G>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.220G>A
  hgvsp: ENSP00000443836.1:p.Val74Met
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.233G>A
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32038
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val79Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-61557273-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557273
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557273
    reference: chr 11
allele count: 6
allele frequency: 5.445535568423155e-5
allele num: 110182
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.234C>T
  hgvsp: ENST00000537328.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.219C>T
  hgvsp: ENST00000543510.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.234C>T
  hgvsp: ENST00000257262.8:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*271C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.232C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*223C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-566C>T
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr78Tyr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-61557273-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557273
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557273
    reference: chr 11
allele count: 1
allele frequency: 9.07589261403859e-6
allele num: 110182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.232C>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*271C>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*82-566C>A
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.234C>A
  hgvsp: ENSP00000443216.1:p.Tyr78Ter
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.234C>A
  hgvsp: ENSP00000257262.8:p.Tyr78Ter
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.219C>A
  hgvsp: ENSP00000443836.1:p.Tyr73Ter
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*223C>A
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr78Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

11-61557290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557290
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557290
    reference: chr 11
allele count: 4
allele frequency: 3.542644584182092e-5
allele num: 112910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.215C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.217C>T
  hgvsp: ENSP00000443216.1:p.Leu73Phe
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*81+557C>T
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.217C>T
  hgvsp: ENSP00000257262.8:p.Leu73Phe
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.202C>T
  hgvsp: ENSP00000443836.1:p.Leu68Phe
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu73Phe
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-61557296-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 61557296
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 61557296
    reference: chr 11
allele count: 1
allele frequency: 8.817098116667842e-6
allele num: 113416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000437809
  ensembl transcript: ENST00000535297
  gene symbol: TMEM258
  hgvsc: ENST00000535297.1:c.*81+551C>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000441836
  ensembl transcript: ENST00000541893
  gene symbol: TMEM258
  hgvsc: ENST00000541893.1:c.*200C>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443216
  ensembl transcript: ENST00000537328
  gene symbol: TMEM258
  hgvsc: ENST00000537328.1:c.211C>G
  hgvsp: ENSP00000443216.1:p.Leu71Val
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134825
  ensembl transcript: ENST00000535042
  gene symbol: TMEM258
  hgvsc: ENST00000535042.1:n.209C>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000257262
  ensembl transcript: ENST00000257262
  gene symbol: TMEM258
  hgvsc: ENST00000257262.8:c.211C>G
  hgvsp: ENSP00000257262.8:p.Leu71Val
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000445404
  ensembl transcript: ENST00000545210
  gene symbol: TMEM258
  hgvsc: ENST00000545210.1:c.*248C>G
  variant of: http://identifiers.org/hgnc/1164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134825
  ensembl protein: ENSP00000443836
  ensembl transcript: ENST00000543510
  gene symbol: TMEM258
  hgvsc: ENST00000543510.1:c.196C>G
  hgvsp: ENSP00000443836.1:p.Leu66Val
  variant of: http://identifiers.org/hgnc/1164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu71Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-9083399-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083399
    reference: chr 12
allele count: 1
allele frequency: 2.787378749024418e-5
allele num: 35876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+131C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.192C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.981C>G
  hgvsp: ENSP00000437659.1:p.Ser327Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.318C>G
  hgvsp: ENSP00000440488.1:p.Ser106Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1161C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*350C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.846C>G
  hgvsp: ENSP00000399194.2:p.Ser282Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.981C>G
  hgvsp: ENSP00000440674.1:p.Ser327Arg
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser327Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-9083422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083422
    reference: chr 12
allele count: 1
allele frequency: 1.941747572815534e-5
allele num: 51500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1004C>T
  hgvsp: ENSP00000437659.1:p.Ala335Val
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.869C>T
  hgvsp: ENSP00000399194.2:p.Ala290Val
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*373C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1004C>T
  hgvsp: ENSP00000440674.1:p.Ala335Val
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.341C>T
  hgvsp: ENSP00000440488.1:p.Ala114Val
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.215C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1184C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+154C>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala335Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

12-9083429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083429
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083429
    reference: chr 12
allele count: 1
allele frequency: 1.725149225407998e-5
allele num: 57966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*380G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.876G>A
  hgvsp: ENST00000433083.2:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1191G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.348G>A
  hgvsp: ENST00000536844.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+161G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1011G>A
  hgvsp: ENST00000544916.1:c.1011G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.222G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1011G>A
  hgvsp: ENST00000543824.1:c.1011G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys337Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-9083439-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083439
    reference: chr 12
allele count: 3
allele frequency: 4.616663075928719e-5
allele num: 64982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1021G>T
  hgvsp: ENSP00000437659.1:p.Ala341Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.886G>T
  hgvsp: ENSP00000399194.2:p.Ala296Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1201G>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*390G>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1021G>T
  hgvsp: ENSP00000440674.1:p.Ala341Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+171G>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.358G>T
  hgvsp: ENSP00000440488.1:p.Ala120Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.232G>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala341Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-9083447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083447
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083447
    reference: chr 12
allele count: 1
allele frequency: 1.399305944251651e-5
allele num: 71464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.240G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1209G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.366G>A
  hgvsp: ENST00000536844.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1029G>A
  hgvsp: ENST00000544916.1:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*398G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.894G>A
  hgvsp: ENST00000433083.2:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1029G>A
  hgvsp: ENST00000543824.1:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+179G>A
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly343Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-9083450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083450
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083450
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 74284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.369T>C
  hgvsp: ENST00000536844.1:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+182T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*401T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1032T>C
  hgvsp: ENST00000544916.1:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1032T>C
  hgvsp: ENST00000543824.1:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.243T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1212T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.897T>C
  hgvsp: ENST00000433083.2:c.897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19917
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Ser344Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-9083451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083451
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083451
    reference: chr 12
allele count: 1
allele frequency: 1.308078694014232e-5
allele num: 76448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1033G>A
  hgvsp: ENSP00000440674.1:p.Gly345Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*402G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.244G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.898G>A
  hgvsp: ENSP00000399194.2:p.Gly300Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1033G>A
  hgvsp: ENSP00000437659.1:p.Gly345Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.370G>A
  hgvsp: ENSP00000440488.1:p.Gly124Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+183G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1213G>A
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly345Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-9083455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083455
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083455
    reference: chr 12
allele count: 1
allele frequency: 1.206476365128007e-5
allele num: 82886
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.902A>G
  hgvsp: ENSP00000399194.2:p.Gln301Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1037A>G
  hgvsp: ENSP00000440674.1:p.Gln346Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.248A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1037A>G
  hgvsp: ENSP00000437659.1:p.Gln346Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+187A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*406A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1217A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.374A>G
  hgvsp: ENSP00000440488.1:p.Gln125Arg
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25884
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln346Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

12-9083462-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083462
    reference: chr 12
allele count: 3
allele frequency: 3.302437198652606e-5
allele num: 90842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.381T>G
  hgvsp: ENSP00000440488.1:p.Asn127Lys
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.255T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1044T>G
  hgvsp: ENSP00000440674.1:p.Asn348Lys
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.909T>G
  hgvsp: ENSP00000399194.2:p.Asn303Lys
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1044T>G
  hgvsp: ENSP00000437659.1:p.Asn348Lys
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+194T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*413T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1224T>G
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn348Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-9083473-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083473
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083473
    reference: chr 12
allele count: 2
allele frequency: 2.058290795323563e-5
allele num: 97168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+205A>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1055A>C
  hgvsp: ENSP00000440674.1:p.Asn352Thr
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1055A>C
  hgvsp: ENSP00000437659.1:p.Asn352Thr
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.392A>C
  hgvsp: ENSP00000440488.1:p.Asn131Thr
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*424A>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1235A>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.920A>C
  hgvsp: ENSP00000399194.2:p.Asn307Thr
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.266A>C
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn352Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-9083481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083481
    reference: chr 12
allele count: 1
allele frequency: 9.926543577526305e-6
allele num: 100740
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1063C>T
  hgvsp: ENSP00000440674.1:p.Arg355Trp
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*432C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1243C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.928C>T
  hgvsp: ENSP00000399194.2:p.Arg310Trp
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1063C>T
  hgvsp: ENSP00000437659.1:p.Arg355Trp
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.400C>T
  hgvsp: ENSP00000440488.1:p.Arg134Trp
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+213C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.274C>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35155
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg355Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-9083482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083482
    reference: chr 12
allele count: 2
allele frequency: 1.965872454195172e-5
allele num: 101736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.275G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1064G>A
  hgvsp: ENSP00000437659.1:p.Arg355Gln
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+214G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.401G>A
  hgvsp: ENSP00000440488.1:p.Arg134Gln
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.929G>A
  hgvsp: ENSP00000399194.2:p.Arg310Gln
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1064G>A
  hgvsp: ENSP00000440674.1:p.Arg355Gln
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*433G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1244G>A
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg355Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

12-9083482-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083482
    reference: chr 12
allele count: 1
allele frequency: 9.829362270975859e-6
allele num: 101736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.401G>T
  hgvsp: ENSP00000440488.1:p.Arg134Leu
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.275G>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1244G>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1064G>T
  hgvsp: ENSP00000440674.1:p.Arg355Leu
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.929G>T
  hgvsp: ENSP00000399194.2:p.Arg310Leu
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+214G>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*433G>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1064G>T
  hgvsp: ENSP00000437659.1:p.Arg355Leu
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg355Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-9083497-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083497
    reference: chr 12
allele count: 1
allele frequency: 9.134755919321835e-6
allele num: 109472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1259C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.944C>T
  hgvsp: ENSP00000399194.2:p.Ala315Val
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*448C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+229C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.290C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1079C>T
  hgvsp: ENSP00000437659.1:p.Ala360Val
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1079C>T
  hgvsp: ENSP00000440674.1:p.Ala360Val
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.416C>T
  hgvsp: ENSP00000440488.1:p.Ala139Val
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala360Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-9083498-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083498
    reference: chr 12
allele count: 3
allele frequency: 2.728115963115872e-5
allele num: 109966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+230G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1260G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.291G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.945G>A
  hgvsp: ENST00000433083.2:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*449G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1080G>A
  hgvsp: ENST00000544916.1:c.1080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1080G>A
  hgvsp: ENST00000543824.1:c.1080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.417G>A
  hgvsp: ENST00000536844.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala360Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-9083499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083499
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083499
    reference: chr 12
allele count: 1
allele frequency: 9.064539521392313e-6
allele num: 110320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.418C>T
  hgvsp: ENSP00000440488.1:p.Pro140Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1261C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.946C>T
  hgvsp: ENSP00000399194.2:p.Pro316Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1081C>T
  hgvsp: ENSP00000437659.1:p.Pro361Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1081C>T
  hgvsp: ENSP00000440674.1:p.Pro361Ser
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.292C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+231C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*450C>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro361Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

12-9083504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083504
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083504
    reference: chr 12
allele count: 1
allele frequency: 8.957844384327355e-6
allele num: 111634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1086C>T
  hgvsp: ENST00000544916.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.951C>T
  hgvsp: ENST00000433083.2:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*455C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.297C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+236C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1086C>T
  hgvsp: ENST00000543824.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.423C>T
  hgvsp: ENST00000536844.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1266C>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser362Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

12-9083528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083528
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083528
    reference: chr 12
allele count: 20
allele frequency: 1.764415272778601e-4
allele num: 113352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.970+5A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1105+5A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.316+5A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.12+5A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+260A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*474+5A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1105+5A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1285+5A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.442+5A>G
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38307
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1105+5A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-9083532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083532
    reference: chr 12
allele count: 2
allele frequency: 1.769566986958291e-5
allele num: 113022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+264T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1285+9T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*474+9T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1105+9T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.970+9T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.442+9T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.12+9T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.316+9T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1105+9T>C
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

12-9083550-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083548
    reference: chr 12
allele count: 1
allele frequency: 8.946464357286e-6
allele num: 111776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+287_283+288delTC
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1285+32_1285+33delTC
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.12+32_12+33delTC
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1105+32_1105+33delTC
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.442+32_442+33delTC
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.316+32_316+33delTC
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.970+32_970+33delTC
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1105+32_1105+33delTC
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*474+32_*474+33delTC
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29975
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9652
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: TTC
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-9083554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083554
    reference: chr 12
allele count: 1
allele frequency: 8.990703612464711e-6
allele num: 111226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.316+31C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+286C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.442+31C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*474+31C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1105+31C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1285+31C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.970+31C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1105+31C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.12+31C>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-9083561-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083561
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083561
    reference: chr 12
allele count: 1
allele frequency: 9.108297659167501e-6
allele num: 109790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.12+38T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1105+38T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*474+38T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.316+38T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.970+38T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.442+38T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1105+38T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+293T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1285+38T>C
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

12-9083563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083563
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083563
    reference: chr 12
allele count: 4
allele frequency: 3.675659780930677e-5
allele num: 108824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+295C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1105+40C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.970+40C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*474+40C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.442+40C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.316+40C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1105+40C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.12+40C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1285+40C>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15563
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16600
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-9083564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083564
    reference: chr 12
allele count: 1
allele frequency: 9.207424867413082e-6
allele num: 108608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.316+41A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+296A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1105+41A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.442+41A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1105+41A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.12+41A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*474+41A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1285+41A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.970+41A>G
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16653
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6793
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

12-9083570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083570
    reference: chr 12
allele count: 1
allele frequency: 9.394964299135663e-6
allele num: 106440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.12+47A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1285+47A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*474+47A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.970+47A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+302A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1105+47A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.316+47A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.442+47A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1105+47A>G
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

12-9083575-TCCTTTTTTTCTTTTTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9083575
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9083557
    reference: chr 12
allele count: 1
allele frequency: 9.724221089890699e-6
allele num: 102836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: TCCTTTTTTTCTTTTTTTG
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-9085117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085117
    reference: chr 12
allele count: 1
allele frequency: 8.362043014349267e-6
allele num: 119588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-42G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-42G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-42G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-42G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-42G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-42G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-42G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1849G>A
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-42G>A
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-9085120-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085120
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085119
    reference: chr 12
allele count: 27
allele frequency: 2.255262278650184e-4
allele num: 119720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-33delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-33delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-33delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1858delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-33delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-33delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-33delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-33delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-33delT
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8970
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23478
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: CT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-9085133-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085133
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085133
    reference: chr 12
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-26G>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-26G>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1865G>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-26G>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-26G>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-26G>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-26G>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-26G>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-26G>C
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-9085140-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085140
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085140
    reference: chr 12
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1872T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-19T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-19T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-19T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-19T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-19T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-19T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-19T>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-19T>G
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10692
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-9085146-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085146
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085146
    reference: chr 12
allele count: 6
allele frequency: 4.953028777097195e-5
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-13A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-13A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-13A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1878A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-13A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-13A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-13A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-13A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-13A>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-9085146-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085146
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085145
    reference: chr 12
allele count: 117
allele frequency: 9.65840611533953e-4
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-11delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-11delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-11delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-11delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-11delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1880delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-11delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-11delT
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-11delT
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26156
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15757
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: AT
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

12-9085152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085152
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085152
    reference: chr 12
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-7C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-7C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-7C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-7C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-7C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1884C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-7C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-7C>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-7C>T
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1106-7C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

12-9085153-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085153
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085153
    reference: chr 12
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1885C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-6C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-6C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-6C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-6C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-6C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-6C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-6C>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-6C>G
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1106-6C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-9085154-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085154
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085155
    reference: chr 12
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-4dupA
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1887dupA
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-4dupA
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-4dupA
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-4dupA
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-4dupA
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-4dupA
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-4dupA
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-4dupA
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1106-4dupA
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-9085155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085155
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085155
    reference: chr 12
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1106-4A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1286-4A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.971-4A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1106-4A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*475-4A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.443-4A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1887A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.13-4A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.317-4A>G
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1106-4A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-9085161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085161
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085161
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1893A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1288A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.445A>G
  hgvsp: ENSP00000440488.1:p.Thr149Ala
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1108A>G
  hgvsp: ENSP00000437659.1:p.Thr370Ala
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.319A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.15A>G
  hgvsp: ENSP00000443676.1:p.Thr6Ala
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*477A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1108A>G
  hgvsp: ENSP00000440674.1:p.Thr370Ala
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.973A>G
  hgvsp: ENSP00000399194.2:p.Thr325Ala
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr370Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-9085173-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085173
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1905A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.27A>T
  hgvsp: ENSP00000443676.1:p.Ile10Phe
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.331A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1300A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1120A>T
  hgvsp: ENSP00000437659.1:p.Ile374Phe
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.457A>T
  hgvsp: ENSP00000440488.1:p.Ile153Phe
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.985A>T
  hgvsp: ENSP00000399194.2:p.Ile329Phe
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*489A>T
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1120A>T
  hgvsp: ENSP00000440674.1:p.Ile374Phe
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile374Phe
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-9085183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085183
    reference: chr 12
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*499A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.467A>G
  hgvsp: ENSP00000440488.1:p.His156Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1130A>G
  hgvsp: ENSP00000437659.1:p.His377Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.37A>G
  hgvsp: ENSP00000443676.1:p.His13Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.341A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1310A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.995A>G
  hgvsp: ENSP00000399194.2:p.His332Arg
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1915A>G
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1130A>G
  hgvsp: ENSP00000440674.1:p.His377Arg
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His377Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-9085184-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9085184
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 9085184
    reference: chr 12
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000443676
  ensembl transcript: ENST00000537610
  gene symbol: PHC1
  hgvsc: ENST00000537610.1:c.38T>C
  hgvsp: ENST00000537610.1:c.38T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000539928
  gene symbol: PHC1
  hgvsc: ENST00000539928.1:n.342T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000437659
  ensembl transcript: ENST00000544916
  gene symbol: PHC1
  hgvsc: ENST00000544916.1:c.1131T>C
  hgvsp: ENST00000544916.1:c.1131T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000446388
  ensembl transcript: ENST00000542346
  gene symbol: PHC1
  hgvsc: ENST00000542346.1:c.283+1916T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440488
  ensembl transcript: ENST00000536844
  gene symbol: PHC1
  hgvsc: ENST00000536844.1:c.468T>C
  hgvsp: ENST00000536844.1:c.468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000444308
  ensembl transcript: ENST00000540574
  gene symbol: PHC1
  hgvsc: ENST00000540574.1:c.*500T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111752
  ensembl transcript: ENST00000433847
  gene symbol: PHC1
  hgvsc: ENST00000433847.2:n.1311T>C
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000399194
  ensembl transcript: ENST00000433083
  gene symbol: PHC1
  hgvsc: ENST00000433083.2:c.996T>C
  hgvsp: ENST00000433083.2:c.996T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111752
  ensembl protein: ENSP00000440674
  ensembl transcript: ENST00000543824
  gene symbol: PHC1
  hgvsc: ENST00000543824.1:c.1131T>C
  hgvsp: ENST00000543824.1:c.1131T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3182
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25850
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His377His
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 896
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.759796e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.218e0

FS
type: SiteQuality
SIO_000300: 7.28e-1

MQ
type: SiteQuality
SIO_000300: 5.844e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.904e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

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

GenotypeQuality
all individuals: 3160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

FS
type: SiteQuality
SIO_000300: 5.318e0

DP
type: SiteQuality
SIO_000300: 1.758727e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.312e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.63e0

MQ
type: SiteQuality
SIO_000300: 5.841e1

VQSLOD
type: SiteQuality
SIO_000300: -1.888e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.421e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 10574
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
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: 6592
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 5.872e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.758121e6

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e0

QD
type: SiteQuality
SIO_000300: 8.77e0

VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e0

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

GenotypeQuality
all individuals: 3157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 7.25e1
variant carriers: 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: 10374
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504504504504505e-5
allele num: 66600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.749e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 5.236e0

DP
type: SiteQuality
SIO_000300: 1.757707e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.404e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

GenotypeQuality
all individuals: 868
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3149
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 1.674e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.757288e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 1.001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10497
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007157033740302e-5
allele num: 66508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 1.755382e6

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

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

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

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.459e0

MQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

FS
type: SiteQuality
SIO_000300: 3.616e0

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 1.747988e6

GenotypeQuality
all individuals: 3018
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 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: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516346212167162e-5
allele num: 65948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.717602e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.243e0

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.334e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 1.692e0

GenotypeQuality
all individuals: 2917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2921
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.05698214722426e-5
allele num: 65424
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.653e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 1.665372e6

GenotypeQuality
all individuals: 2836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537893700787402e-5
allele num: 65024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 2.226e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 2.202e0

VQSLOD
type: SiteQuality
SIO_000300: -1.487e0

DP
type: SiteQuality
SIO_000300: 1.616188e6

GenotypeQuality
all individuals: 2600
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544974198930878e-5
allele num: 64726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 8.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.17e-2

FS
type: SiteQuality
SIO_000300: 4.904e0

DP
type: SiteQuality
SIO_000300: 1.582151e6

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.286e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

GenotypeQuality
all individuals: 1670
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5689
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.179705846001731e-5
allele num: 16182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.147e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 3.617e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 5.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.299e0

DP
type: SiteQuality
SIO_000300: 1.454717e6

GenotypeQuality
all individuals: 801
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 418
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593066972535525e-5
allele num: 62772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039284971939306e-4
allele num: 9622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.287e2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 1.66784e2

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.420665e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.287e0

QD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

GenotypeQuality
all individuals: 2325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62538
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 1.410021e6

MQ
type: SiteQuality
SIO_000300: 5.753e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 2.85e0

GenotypeQuality
all individuals: 5179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.344809037116729e-4
allele num: 7436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4834
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.815337657382678e-5
allele num: 52420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.312376e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.504e0

QD
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.5423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
all individuals: 1217
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1350
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 758
bin: 9.25e1
variant carriers: 17

European (Finnish)
type: Population
allele count: 23
allele frequency: 4.757964418700869e-3
allele num: 4834
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 3.111536620392532e-3
allele num: 8356
num of homozygotes: 0

South Asian
type: Population
allele count: 142
allele frequency: 1.170458292120013e-2
allele num: 12132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 199
allele frequency: 3.796260969095765e-3
allele num: 52420
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.835985312117503e-3
allele num: 6536
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.470588235294118e-3
allele num: 680
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 4.437869822485207e-3
allele num: 7436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.312376e6

FS
type: SiteQuality
SIO_000300: 1.5423e1

VQSLOD
type: SiteQuality
SIO_000300: -2.504e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.769e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 2333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8548
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.06803e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.037e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 4.5e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.681e0

GenotypeQuality
all individuals: 1846
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8949
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3188
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56896
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.287e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.22e0

DP
type: SiteQuality
SIO_000300: 1.070704e6

GenotypeQuality
all individuals: 2358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2701
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 744
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6844
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6570
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.12943302462164e-4
allele num: 8854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57086
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.075451e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

FS
type: SiteQuality
SIO_000300: 2.614e0

QD
type: SiteQuality
SIO_000300: 1.112e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2856
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4289
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9889
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.747030048916841e-5
allele num: 57240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.852e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

DP
type: SiteQuality
SIO_000300: 1.096983e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

GenotypeQuality
all individuals: 1387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6196
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6686
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.246686137946529e-4
allele num: 8902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10594
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.101705e6

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
all individuals: 2819
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5817
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 715
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 759
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.37990085624155e-4
allele num: 8876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.78000378000378e-4
allele num: 10582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.011e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.116834e6

GenotypeQuality
all individuals: 4900
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.039284971939306e-4
allele num: 57732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.148996e6

QD
type: SiteQuality
SIO_000300: 1.08e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

FS
type: SiteQuality
SIO_000300: 1.844e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 1209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
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: 0
allele frequency: 0.0e0
allele num: 57738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.182736455463728e-5
allele num: 10890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.153549e6

FS
type: SiteQuality
SIO_000300: 5.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.289e1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.55e-1

GenotypeQuality
all individuals: 3996
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2718
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2727
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10452
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21062
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 43
allele frequency: 5.572835666148263e-3
allele num: 7716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.157739e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.397e0

QD
type: SiteQuality
SIO_000300: 1.01e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 318
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.281394156842645e-4
allele num: 7804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.202591e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

FS
type: SiteQuality
SIO_000300: 2.824e0

VQSLOD
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.023e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeQuality
all individuals: 939
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30100
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.667333600106709e-5
allele num: 59976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

FS
type: SiteQuality
SIO_000300: 5.402e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.284363e6

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.914326901025456e-5
allele num: 61046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13674
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 2.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

DP
type: SiteQuality
SIO_000300: 1.333695e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

GenotypeQuality
all individuals: 999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2383
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13874
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.062699256110521e-4
allele num: 9410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.168866814795452e-5
allele num: 61208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 2.551e0

DP
type: SiteQuality
SIO_000300: 1.339782e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.103e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63377336295909e-5
allele num: 61208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.103e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 2.551e0

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

DP
type: SiteQuality
SIO_000300: 1.339782e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 587
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5859
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.417455478902615e-5
allele num: 62330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.263e0

DP
type: SiteQuality
SIO_000300: 1.37875e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 1004
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15152
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.189487226612754e-5
allele num: 10882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.567e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
SIO_000300: 7.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 1.385151e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.675e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.57e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5863
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.349309939017867e-5
allele num: 18694
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

QD
type: SiteQuality
SIO_000300: 1.093e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 3.338e1

VQSLOD
type: SiteQuality
SIO_000300: -2.576e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.03548e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 8803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.500420050406049e-5
allele num: 28568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3276
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: -3.848e0

DP
type: SiteQuality
SIO_000300: 7.20446e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.923e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 3.32e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
all individuals: 31352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1967
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.067296484878228e-5
allele num: 32602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4416
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

MQ
type: SiteQuality
SIO_000300: 3.269e1

FS
type: SiteQuality
SIO_000300: 3.405e0

QD
type: SiteQuality
SIO_000300: 3.31e1

VQSLOD
type: SiteQuality
SIO_000300: -2.728e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

DP
type: SiteQuality
SIO_000300: 7.71351e5

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2808
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 279
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 708
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 5.736137667304016e-4
allele num: 5230
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

QD
type: SiteQuality
SIO_000300: 1.208e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

MQ
type: SiteQuality
SIO_000300: 3.338e1

VQSLOD
type: SiteQuality
SIO_000300: -4.069e0

DP
type: SiteQuality
SIO_000300: 8.33201e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.491646778042959e-4
allele num: 6704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5240
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

DP
type: SiteQuality
SIO_000300: 8.92935e5

MQ
type: SiteQuality
SIO_000300: 3.338e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.824e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.447e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

GenotypeQuality
all individuals: 2730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7130
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -3.941e-1

DP
type: SiteQuality
SIO_000300: 9.21375e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 6.75e0

MQ
type: SiteQuality
SIO_000300: 3.468e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 2650
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.337971635001338e-4
allele num: 7474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 3.323e1

DP
type: SiteQuality
SIO_000300: 9.38721e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.715e0

VQSLOD
type: SiteQuality
SIO_000300: -3.792e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

GenotypeQuality
all individuals: 26986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.02e1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 1.000284e6

QD
type: SiteQuality
SIO_000300: 3.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
all individuals: 472
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.714285714285714e-5
allele num: 52500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.149e1

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 3.967e1

FS
type: SiteQuality
SIO_000300: 1.821e0

VQSLOD
type: SiteQuality
SIO_000300: -1.639e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 1.084909e6

GenotypeQuality
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.785140490556607e-5
allele num: 56018
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.227295041728031e-4
allele num: 8148
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.971e0

VQSLOD
type: SiteQuality
SIO_000300: -2.469e2

QD
type: SiteQuality
SIO_000300: 6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 2.27328e2

DP
type: SiteQuality
SIO_000300: 1.161539e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.277e0

MQ
type: SiteQuality
SIO_000300: 3.808e1

GenotypeQuality
all individuals: 38878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1368
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.675603217158177e-4
allele num: 5968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 1.3415e1

DP
type: SiteQuality
SIO_000300: 1.20423e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQ
type: SiteQuality
SIO_000300: 4.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

GenotypeQuality
all individuals: 684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 965
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.420908593322387e-5
allele num: 58464
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.057e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.214733e6

MQ
type: SiteQuality
SIO_000300: 4.72e1

QD
type: SiteQuality
SIO_000300: 2.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeQuality
all individuals: 684
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.710454296661193e-5
allele num: 58464
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.057e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.214733e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 4.72e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.46e0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.981498113885396e-5
allele num: 11134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62258
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

FS
type: SiteQuality
SIO_000300: 3.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 4.728e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

DP
type: SiteQuality
SIO_000300: 1.304007e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.091e1

VQSLOD
type: SiteQuality
SIO_000300: -1.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

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

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

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

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 45677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.202049311559398e-5
allele num: 62460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2224e1

MQ
type: SiteQuality
SIO_000300: 4.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.308757e6

VQSLOD
type: SiteQuality
SIO_000300: -2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

GenotypeQuality
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597137928831534e-5
allele num: 62612
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.269e1

DP
type: SiteQuality
SIO_000300: 1.311636e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 4.755e1

VQSLOD
type: SiteQuality
SIO_000300: -1.971e0

FS
type: SiteQuality
SIO_000300: 8.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46899
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5340
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170686022008897e-4
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.241e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 9.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.648e0

DP
type: SiteQuality
SIO_000300: 1.325633e6

VQSLOD
type: SiteQuality
SIO_000300: -2.625e0

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 4.619e1

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 5927
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 626
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12666
num of homozygotes: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.108222066057625e-3
allele num: 8538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63876
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.773993258825616e-4
allele num: 11274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 4.733e1

DP
type: SiteQuality
SIO_000300: 1.324627e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 4.085e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.061e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 865
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12530
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.876264867743653e-5
allele num: 11266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568922777620886e-5
allele num: 63738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.865e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.312253e6

VQSLOD
type: SiteQuality
SIO_000300: -1.539e0

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 2745
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58202816010125e-5
allele num: 63210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 4.95e1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

FS
type: SiteQuality
SIO_000300: 1.263e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 1.235774e6

QD
type: SiteQuality
SIO_000300: 1.521e1

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 201
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.962179602079225e-5
allele num: 11158
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.371e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.474e0

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

DP
type: SiteQuality
SIO_000300: 1.198616e6

MQ
type: SiteQuality
SIO_000300: 4.596e1

GenotypeQuality
all individuals: 1294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6870
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.111562e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

VQSLOD
type: SiteQuality
SIO_000300: -2.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.572e0

FS
type: SiteQuality
SIO_000300: 3.245e0

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 4.681e1

GenotypeQuality
all individuals: 4189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.808318264014467e-4
allele num: 11060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.178174689610107e-4
allele num: 9182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 1.089622e6

MQ
type: SiteQuality
SIO_000300: 4.5e1

VQSLOD
type: SiteQuality
SIO_000300: -2.165e0

FS
type: SiteQuality
SIO_000300: 5.465e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
all individuals: 2423
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10500
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4267
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.1441111923921e-5
allele num: 10936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.078598e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

QD
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
type: SiteQuality
SIO_000300: -2.21e0

MQ
type: SiteQuality
SIO_000300: 4.729e1

GenotypeQuality
all individuals: 4932
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1738
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8007
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.643223346917313e-5
allele num: 60856
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.07e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 1.055406e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.509e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeQuality
all individuals: 3919
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4641
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 392
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.698081168279844e-5
allele num: 58890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

DP
type: SiteQuality
SIO_000300: 1.054967e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQ
type: SiteQuality
SIO_000300: 4.882e1

QD
type: SiteQuality
SIO_000300: 2.72e0

VQSLOD
type: SiteQuality
SIO_000300: -2.466e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.244e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 882
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2284
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.616406e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.255e0

VQSLOD
type: SiteQuality
SIO_000300: -1.549e0

QD
type: SiteQuality
SIO_000300: 1.122e1

FS
type: SiteQuality
SIO_000300: 6.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.163e1

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 9.75e1
variant carriers: 27

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

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

GenotypeQuality
all individuals: 1336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.633390862021982e-4
allele num: 66054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.746114894360049e-4
allele num: 11454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 2.472e0

DP
type: SiteQuality
SIO_000300: 1.6352e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.142e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32778
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10578
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 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: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505525277769414e-5
allele num: 66422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

VQSLOD
type: SiteQuality
SIO_000300: -1.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 7.03e-1

DP
type: SiteQuality
SIO_000300: 1.674477e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.79e-1

MQ
type: SiteQuality
SIO_000300: 5.321e1

GenotypeQuality
all individuals: 33190
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4666
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.03e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.525e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

VQSLOD
type: SiteQuality
SIO_000300: -7.65e-2

DP
type: SiteQuality
SIO_000300: 1.6829e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

GenotypeQuality
all individuals: 2431
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33310
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1097
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.50480307396734e-5
allele num: 66624
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.792e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.244e1

DP
type: SiteQuality
SIO_000300: 1.690442e6

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4675
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 9.75e1
variant carriers: 117

GenotypeQuality
all individuals: 33310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 109
allele frequency: 6.644720799804925e-3
allele num: 16404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200768491834774e-4
allele num: 66624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.792e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

QD
type: SiteQuality
SIO_000300: 1.44e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.690442e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.244e1

GenotypeQuality
all individuals: 3019
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10770
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.378e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 2.921e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.414e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.845e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

DP
type: SiteQuality
SIO_000300: 1.690807e6

MQ
type: SiteQuality
SIO_000300: 5.506e1

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33412
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10775
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

MQ
type: SiteQuality
SIO_000300: 5.082e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.192e1

DP
type: SiteQuality
SIO_000300: 1.69117e6

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

GenotypeQuality
all individuals: 33453
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4704
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.492e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 8.396000000000001e0

QD
type: SiteQuality
SIO_000300: 1.658e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

DP
type: SiteQuality
SIO_000300: 1.691372e6

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.457e0

FS
type: SiteQuality
SIO_000300: 2.493e0

DP
type: SiteQuality
SIO_000300: 1.691663e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.227e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.389e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.701e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 10796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.085e0

MQ
type: SiteQuality
SIO_000300: 5.371e1

DP
type: SiteQuality
SIO_000300: 1.693105e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 3.138e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

GenotypeQuality
all individuals: 33466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3705
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3024
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQ
type: SiteQuality
SIO_000300: 4.879e1

DP
type: SiteQuality
SIO_000300: 1.694105e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.465e0

QD
type: SiteQuality
SIO_000300: 1.076e1

VQSLOD
type: SiteQuality
SIO_000300: -1.736e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 3709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33393
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4708
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10813
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.47e0

MQ
type: SiteQuality
SIO_000300: 4.714e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

DP
type: SiteQuality
SIO_000300: 1.694799e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 5.457e0

QD
type: SiteQuality
SIO_000300: 9.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-2