1-38149082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149082
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149082
    reference: chr 1
allele count: 24
allele frequency: 1.98288112627648e-4
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.483G>A
  hgvsp: ENST00000358011.4:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.483G>A
  hgvsp: ENST00000464085.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.783G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.483G>A
  hgvsp: ENST00000491981.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.296G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*128G>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser161Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-38149083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149083
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149083
    reference: chr 1
allele count: 5
allele frequency: 4.131753350851967e-5
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.295C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.482C>T
  hgvsp: ENSP00000477011.1:p.Ser161Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.782C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.482C>T
  hgvsp: ENSP00000477159.1:p.Ser161Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.482C>T
  hgvsp: ENSP00000350704.4:p.Ser161Leu
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser161Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-38149085-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149085
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149085
    reference: chr 1
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.780T>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*125T>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.480T>A
  hgvsp: ENST00000358011.4:c.480T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.480T>A
  hgvsp: ENST00000464085.1:c.480T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.480T>A
  hgvsp: ENST00000491981.1:c.480T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.293T>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu160Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-38149087-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149087
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149086
    reference: chr 1
allele count: 3
allele frequency: 2.480404802063697e-5
allele num: 120948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.290delT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.777delT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.477delT
  hgvsp: ENSP00000477159.1:p.Leu160PhefsTer36
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*122delT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.477delT
  hgvsp: ENSP00000350704.4:p.Leu160PhefsTer36
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.477delT
  hgvsp: ENSP00000477011.1:p.Leu160PhefsTer?
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29534
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu160PhefsTer36
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: GA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-38149094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149094
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149094
    reference: chr 1
allele count: 4
allele frequency: 3.309723969020984e-5
allele num: 120856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.471G>A
  hgvsp: ENST00000464085.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.771G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.471G>A
  hgvsp: ENST00000491981.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.284G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.471G>A
  hgvsp: ENST00000358011.4:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*116G>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10222
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys157Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-38149098-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149098
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149098
    reference: chr 1
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.467G>T
  hgvsp: ENSP00000477011.1:p.Arg156Ile
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*112G>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.467G>T
  hgvsp: ENSP00000350704.4:p.Arg156Ile
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.467G>T
  hgvsp: ENSP00000477159.1:p.Arg156Ile
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.280G>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.767G>T
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29530
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg156Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-38149100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149100
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149100
    reference: chr 1
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.278G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.465G>A
  hgvsp: ENST00000358011.4:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*110G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.765G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.465G>A
  hgvsp: ENST00000464085.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.465G>A
  hgvsp: ENST00000491981.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys155Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

1-38149115-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149115
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149114
    reference: chr 1
allele count: 2
allele frequency: 1.658594838452863e-5
allele num: 120584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.749delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*94delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-7delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-7delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-3delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-7delC
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
hgvs: c.456-7delC
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: TG
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-38149126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149126
    reference: chr 1
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-13C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.739C>T
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-38149132-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149132
    reference: chr 1
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*78A>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-23A>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.733A>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-23A>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-23A>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-19A>T
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29519
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
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genotype quality: GenotypeQuality
  all individuals: 64
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-38149134-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149134
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149134
    reference: chr 1
allele count: 10
allele frequency: 8.321544478655238e-5
allele num: 120170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-21T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.731T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-25T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-25T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-25T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*76T>G
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

1-38149138-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149138
    reference: chr 1
allele count: 2
allele frequency: 1.665695011243441e-5
allele num: 120070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*72C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-29C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-25C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-29C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.727C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-29C>G
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-38149145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149145
    reference: chr 1
allele count: 2
allele frequency: 1.668613382279326e-5
allele num: 119860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*65G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-36G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-36G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-36G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-32G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.720G>A
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29499
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-38149150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149150
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149150
    reference: chr 1
allele count: 1
allele frequency: 8.354777261638205e-6
allele num: 119692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.715A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*62-2A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-37A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-41A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-41A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-41A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3471
  bin: 8.25e1
  variant carriers: 0
hgvs: c.*62-2A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-38149159-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149160
    reference: chr 1
allele count: 56
allele frequency: 4.803568365071196e-4
allele num: 116580
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-51dupT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.705dupT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*62-12dupT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-47dupT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-51dupT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-51dupT
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28199
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-38149159-GAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38149159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38149156
    reference: chr 1
allele count: 1
allele frequency: 8.577800651912849e-6
allele num: 116580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.456-53_456-51delTTT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*62-14_*62-12delTTT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.265-49_265-47delTTT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.456-53_456-51delTTT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000609516
  gene symbol: C1orf109
  hgvsc: ENST00000609516.1:n.703_705delTTT
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.456-53_456-51delTTT
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: GAAA
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

1-38151922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151922
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151922
    reference: chr 1
allele count: 1
allele frequency: 1.030694069386325e-5
allele num: 97022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.455+23G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.455+23G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*61+23G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.264+23G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.455+23G>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 30511
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 11488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-38151929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151929
    reference: chr 1
allele count: 11
allele frequency: 1.094570928196147e-4
allele num: 100496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.455+16A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.455+16A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.455+16A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*61+16A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.264+16A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32100
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-38151931-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151931
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151930
    reference: chr 1
allele count: 1
allele frequency: 9.883180802909608e-6
allele num: 101182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.455+13delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*61+13delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.455+13delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.455+13delC
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.264+13delC
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35202
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: TG
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-38151944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151944
    reference: chr 1
allele count: 2
allele frequency: 1.866368047779022e-5
allele num: 107160
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.455+1G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.455+1G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.264+1G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.455+1G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*61+1G>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 5.25e1
  variant carriers: 0
hgvs: c.455+1G>A
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-38151945-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151945
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151945
    reference: chr 1
allele count: 1
allele frequency: 9.248127254231018e-6
allele num: 108130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.264C>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.455C>A
  hgvsp: ENSP00000477011.1:p.Ser152Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.455C>A
  hgvsp: ENSP00000477159.1:p.Ser152Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.455C>A
  hgvsp: ENST00000461359.1:c.455C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.455C>A
  hgvsp: ENSP00000350704.4:p.Ser152Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*61C>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser152Ter
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-38151952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151952
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151952
    reference: chr 1
allele count: 1
allele frequency: 9.015019021690137e-6
allele num: 110926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.448C>T
  hgvsp: ENSP00000477159.1:p.Arg150Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.448C>T
  hgvsp: ENSP00000350704.4:p.Arg150Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.448C>T
  hgvsp: ENSP00000477011.1:p.Arg150Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.448C>T
  hgvsp: ENSP00000476934.1:p.Arg150Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.257C>T
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg150Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

1-38151957-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151957
    reference: chr 1
allele count: 1
allele frequency: 8.884466398948079e-6
allele num: 112556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.252A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.443A>G
  hgvsp: ENSP00000477159.1:p.His148Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.443A>G
  hgvsp: ENSP00000350704.4:p.His148Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.443A>G
  hgvsp: ENSP00000476934.1:p.His148Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*49A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.443A>G
  hgvsp: ENSP00000477011.1:p.His148Arg
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His148Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-38151987-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151987
    reference: chr 1
allele count: 1
allele frequency: 8.574417368339821e-6
allele num: 116626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.413T>C
  hgvsp: ENSP00000350704.4:p.Met138Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.413T>C
  hgvsp: ENSP00000476341.1:p.Met138Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.413T>C
  hgvsp: ENSP00000476934.1:p.Met138Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.413T>C
  hgvsp: ENSP00000477011.1:p.Met138Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.222T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.413T>C
  hgvsp: ENSP00000477159.1:p.Met138Thr
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met138Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-38151994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38151994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38151994
    reference: chr 1
allele count: 4
allele frequency: 3.420382056675731e-5
allele num: 116946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.215G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.406G>A
  hgvsp: ENSP00000476341.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.406G>A
  hgvsp: ENSP00000477159.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.406G>A
  hgvsp: ENSP00000350704.4:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.406G>A
  hgvsp: ENSP00000477011.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.406G>A
  hgvsp: ENSP00000476934.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12475
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala136Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-38152013-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152013
    reference: chr 1
allele count: 1
allele frequency: 8.468547813420954e-6
allele num: 118084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.387A>G
  hgvsp: ENST00000464085.1:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.196A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.335A>G
  hgvsp: ENSP00000477273.1:p.Gln112Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.387A>G
  hgvsp: ENST00000477060.1:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.387A>G
  hgvsp: ENST00000491981.1:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.387A>G
  hgvsp: ENST00000461359.1:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.387A>G
  hgvsp: ENST00000358011.4:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln112Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-38152015-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152015
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152015
    reference: chr 1
allele count: 2
allele frequency: 1.692161906051171e-5
allele num: 118192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.385T>A
  hgvsp: ENSP00000350704.4:p.Ser129Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.385T>A
  hgvsp: ENSP00000477159.1:p.Ser129Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.385T>A
  hgvsp: ENSP00000476934.1:p.Ser129Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.333T>A
  hgvsp: ENST00000494120.1:c.333T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.385T>A
  hgvsp: ENSP00000477011.1:p.Ser129Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.385T>A
  hgvsp: ENSP00000476341.1:p.Ser129Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.194T>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser129Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-38152024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152024
    reference: chr 1
allele count: 1
allele frequency: 8.436255652291287e-6
allele num: 118536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.376C>T
  hgvsp: ENST00000491981.1:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.185C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.324C>T
  hgvsp: ENST00000494120.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.376C>T
  hgvsp: ENST00000461359.1:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.376C>T
  hgvsp: ENST00000477060.1:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.376C>T
  hgvsp: ENST00000464085.1:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.376C>T
  hgvsp: ENST00000358011.4:c.376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48606
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu126Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-38152026-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152026
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152026
    reference: chr 1
allele count: 1
allele frequency: 8.429286713758282e-6
allele num: 118634
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.374T>A
  hgvsp: ENSP00000350704.4:p.Val125Asp
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.374T>A
  hgvsp: ENSP00000476341.1:p.Val125Asp
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.322T>A
  hgvsp: ENSP00000477273.1:p.Ser108Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.183T>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.374T>A
  hgvsp: ENSP00000477011.1:p.Val125Asp
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.374T>A
  hgvsp: ENSP00000476934.1:p.Val125Asp
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.374T>A
  hgvsp: ENSP00000477159.1:p.Val125Asp
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val125Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-38152030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152030
    reference: chr 1
allele count: 1
allele frequency: 8.417933565668301e-6
allele num: 118794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.370G>A
  hgvsp: ENSP00000476934.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.370G>A
  hgvsp: ENSP00000477159.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.370G>A
  hgvsp: ENSP00000350704.4:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.370G>A
  hgvsp: ENSP00000477011.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.318G>A
  hgvsp: ENSP00000477273.1:p.Met106Ile
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.370G>A
  hgvsp: ENSP00000476341.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.179G>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala124Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-38152032-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152032
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152032
    reference: chr 1
allele count: 1
allele frequency: 8.413117733169558e-6
allele num: 118862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.368A>T
  hgvsp: ENSP00000477159.1:p.Asp123Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.368A>T
  hgvsp: ENSP00000476341.1:p.Asp123Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.177A>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.316A>T
  hgvsp: ENSP00000477273.1:p.Met106Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.368A>T
  hgvsp: ENSP00000476934.1:p.Asp123Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.368A>T
  hgvsp: ENSP00000477011.1:p.Asp123Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.368A>T
  hgvsp: ENSP00000350704.4:p.Asp123Val
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp123Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-38152041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152041
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152041
    reference: chr 1
allele count: 2
allele frequency: 1.679430337229612e-5
allele num: 119088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.359T>C
  hgvsp: ENSP00000476934.1:p.Val120Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.359T>C
  hgvsp: ENSP00000477011.1:p.Val120Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.359T>C
  hgvsp: ENSP00000477159.1:p.Val120Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.359T>C
  hgvsp: ENSP00000350704.4:p.Val120Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.359T>C
  hgvsp: ENSP00000476341.1:p.Val120Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.307T>C
  hgvsp: ENST00000494120.1:c.307T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.168T>C
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val120Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-38152042-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152042
    reference: chr 1
allele count: 1
allele frequency: 8.397151686148059e-6
allele num: 119088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.358G>C
  hgvsp: ENSP00000476934.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.358G>C
  hgvsp: ENSP00000477011.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.358G>C
  hgvsp: ENSP00000350704.4:p.Val120Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.167G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.306G>C
  hgvsp: ENSP00000477273.1:p.Gln102His
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.358G>C
  hgvsp: ENSP00000476341.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.358G>C
  hgvsp: ENSP00000477159.1:p.Val120Leu
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val120Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-38152042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152042
    reference: chr 1
allele count: 1
allele frequency: 8.397151686148059e-6
allele num: 119088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.358G>A
  hgvsp: ENSP00000476341.1:p.Val120Ile
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.358G>A
  hgvsp: ENSP00000477011.1:p.Val120Ile
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.306G>A
  hgvsp: ENST00000494120.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.358G>A
  hgvsp: ENSP00000350704.4:p.Val120Ile
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.167G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.358G>A
  hgvsp: ENSP00000477159.1:p.Val120Ile
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.358G>A
  hgvsp: ENSP00000476934.1:p.Val120Ile
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val120Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

1-38152052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152052
    reference: chr 1
allele count: 1
allele frequency: 8.387572971884856e-6
allele num: 119224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.348C>T
  hgvsp: ENST00000461359.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.348C>T
  hgvsp: ENST00000477060.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.348C>T
  hgvsp: ENST00000464085.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.348C>T
  hgvsp: ENST00000491981.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.157C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.296C>T
  hgvsp: ENSP00000477273.1:p.Thr99Met
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.348C>T
  hgvsp: ENST00000358011.4:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr99Met
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-38152052-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152052
    reference: chr 1
allele count: 1
allele frequency: 8.387572971884856e-6
allele num: 119224
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.348C>G
  hgvsp: ENSP00000350704.4:p.His116Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.348C>G
  hgvsp: ENSP00000477159.1:p.His116Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.348C>G
  hgvsp: ENSP00000476341.1:p.His116Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.348C>G
  hgvsp: ENSP00000477011.1:p.His116Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.348C>G
  hgvsp: ENSP00000476934.1:p.His116Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.296C>G
  hgvsp: ENSP00000477273.1:p.Thr99Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.157C>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His116Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-38152067-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152067
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152067
    reference: chr 1
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.333G>C
  hgvsp: ENSP00000476934.1:p.Gln111His
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.333G>C
  hgvsp: ENSP00000476341.1:p.Gln111His
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.333G>C
  hgvsp: ENSP00000476779.1:p.Gln111His
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.333G>C
  hgvsp: ENSP00000350704.4:p.Gln111His
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.333G>C
  hgvsp: ENSP00000477159.1:p.Gln111His
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.142G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.333G>C
  hgvsp: ENSP00000477011.1:p.Gln111His
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.281G>C
  hgvsp: ENSP00000477273.1:p.Arg94Thr
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39036
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln111His
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-38152069-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152069
    reference: chr 1
allele count: 1
allele frequency: 8.389261744966442e-6
allele num: 119200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.331C>G
  hgvsp: ENSP00000476779.1:p.Gln111Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.279C>G
  hgvsp: ENSP00000477273.1:p.Phe93Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.331C>G
  hgvsp: ENSP00000476934.1:p.Gln111Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.331C>G
  hgvsp: ENSP00000350704.4:p.Gln111Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.331C>G
  hgvsp: ENSP00000477011.1:p.Gln111Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.331C>G
  hgvsp: ENSP00000477159.1:p.Gln111Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.331C>G
  hgvsp: ENSP00000476341.1:p.Gln111Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.140C>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln111Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

1-38152074-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152074
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152074
    reference: chr 1
allele count: 1
allele frequency: 8.39278220730172e-6
allele num: 119150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.326T>C
  hgvsp: ENSP00000477011.1:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.326T>C
  hgvsp: ENSP00000476779.1:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.326T>C
  hgvsp: ENSP00000350704.4:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.326T>C
  hgvsp: ENSP00000477159.1:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.135T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.326T>C
  hgvsp: ENSP00000476341.1:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.326T>C
  hgvsp: ENSP00000476934.1:p.Val109Ala
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.274T>C
  hgvsp: ENSP00000477273.1:p.Cys92Arg
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val109Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-38152076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152076
    reference: chr 1
allele count: 1
allele frequency: 8.3948959032908e-6
allele num: 119120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.324A>G
  hgvsp: ENST00000477060.1:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.324A>G
  hgvsp: ENST00000358011.4:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.324A>G
  hgvsp: ENST00000464085.1:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.324A>G
  hgvsp: ENST00000461359.1:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.324A>G
  hgvsp: ENST00000486637.1:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.272A>G
  hgvsp: ENSP00000477273.1:p.Glu91Gly
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.324A>G
  hgvsp: ENST00000491981.1:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.133A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49799
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu91Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-38152077-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152077
    reference: chr 1
allele count: 3
allele frequency: 2.518849389598831e-5
allele num: 119102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.132G>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.323G>T
  hgvsp: ENSP00000476779.1:p.Arg108Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.323G>T
  hgvsp: ENSP00000477011.1:p.Arg108Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.271G>T
  hgvsp: ENSP00000477273.1:p.Glu91Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.323G>T
  hgvsp: ENSP00000476341.1:p.Arg108Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.323G>T
  hgvsp: ENSP00000477159.1:p.Arg108Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.323G>T
  hgvsp: ENSP00000476934.1:p.Arg108Leu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.323G>T
  hgvsp: ENSP00000350704.4:p.Arg108Leu
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu91Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-38152078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152078
    reference: chr 1
allele count: 6
allele frequency: 5.043118664582178e-5
allele num: 118974
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.322C>T
  hgvsp: ENSP00000350704.4:p.Arg108Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.270C>T
  hgvsp: ENST00000494120.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.322C>T
  hgvsp: ENSP00000476341.1:p.Arg108Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.322C>T
  hgvsp: ENSP00000476934.1:p.Arg108Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.131C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.322C>T
  hgvsp: ENSP00000476779.1:p.Arg108Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.322C>T
  hgvsp: ENSP00000477159.1:p.Arg108Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.322C>T
  hgvsp: ENSP00000477011.1:p.Arg108Ter
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg108Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

1-38152081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152081
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152081
    reference: chr 1
allele count: 1
allele frequency: 8.402937667008386e-6
allele num: 119006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.319G>A
  hgvsp: ENSP00000477159.1:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.267G>A
  hgvsp: ENSP00000477273.1:p.Trp89Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.319G>A
  hgvsp: ENSP00000476341.1:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.319G>A
  hgvsp: ENSP00000350704.4:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.319G>A
  hgvsp: ENSP00000476934.1:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.319G>A
  hgvsp: ENSP00000477011.1:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.128G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.319G>A
  hgvsp: ENSP00000476779.1:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp89Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-38152085-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152085
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152085
    reference: chr 1
allele count: 3
allele frequency: 2.524402558061259e-5
allele num: 118840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.315T>C
  hgvsp: ENST00000491981.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.263T>C
  hgvsp: ENSP00000477273.1:p.Met88Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.315T>C
  hgvsp: ENST00000461359.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.315T>C
  hgvsp: ENST00000358011.4:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.315T>C
  hgvsp: ENST00000486637.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.124T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.315T>C
  hgvsp: ENST00000477060.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.315T>C
  hgvsp: ENST00000464085.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 2.25e1
  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: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met88Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-38152089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152089
    reference: chr 1
allele count: 1
allele frequency: 8.422329279385507e-6
allele num: 118732
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.311G>A
  hgvsp: ENSP00000350704.4:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.311G>A
  hgvsp: ENSP00000476779.1:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.311G>A
  hgvsp: ENSP00000477159.1:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.311G>A
  hgvsp: ENSP00000477011.1:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.259G>A
  hgvsp: ENSP00000477273.1:p.Ala87Thr
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.311G>A
  hgvsp: ENSP00000476934.1:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.120G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.311G>A
  hgvsp: ENSP00000476341.1:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser104Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-38152104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152104
    reference: chr 1
allele count: 12
allele frequency: 1.020165266773217e-4
allele num: 117628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.105G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.296G>A
  hgvsp: ENSP00000477159.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.296G>A
  hgvsp: ENSP00000476341.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.244G>A
  hgvsp: ENSP00000477273.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.296G>A
  hgvsp: ENSP00000476779.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.296G>A
  hgvsp: ENSP00000476934.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.296G>A
  hgvsp: ENSP00000477011.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.296G>A
  hgvsp: ENSP00000350704.4:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15002
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37333
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg99Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-38152105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152105
    reference: chr 1
allele count: 3
allele frequency: 2.554626428461945e-5
allele num: 117434
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.295C>T
  hgvsp: ENSP00000350704.4:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.295C>T
  hgvsp: ENSP00000476934.1:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.104C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.295C>T
  hgvsp: ENSP00000477011.1:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.295C>T
  hgvsp: ENSP00000476779.1:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.295C>T
  hgvsp: ENSP00000477159.1:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.243C>T
  hgvsp: ENST00000494120.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.295C>T
  hgvsp: ENSP00000476341.1:p.Arg99Ter
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47607
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg99Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-38152120-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152120
    reference: chr 1
allele count: 4
allele frequency: 3.465423734687159e-5
allele num: 115426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.89A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.280A>G
  hgvsp: ENSP00000476934.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.280A>G
  hgvsp: ENSP00000477159.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.280A>G
  hgvsp: ENSP00000476341.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.280A>G
  hgvsp: ENSP00000350704.4:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.280A>G
  hgvsp: ENSP00000476779.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.228A>G
  hgvsp: ENST00000494120.1:c.228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.280A>G
  hgvsp: ENSP00000477011.1:p.Ile94Val
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14188
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile94Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-38152137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152137
    reference: chr 1
allele count: 1
allele frequency: 8.942944017170453e-6
allele num: 111820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.224-13C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.276-13C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.276-13C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.85-13C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.276-13C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.276-13C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.276-13C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.276-13C>T
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28677
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

1-38152141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152141
    reference: chr 1
allele count: 9
allele frequency: 8.125823868253309e-5
allele num: 110758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.276-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.276-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.276-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.276-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.276-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.276-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.85-17C>T
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.224-17C>T
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25776
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-38152153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152153
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152153
    reference: chr 1
allele count: 4
allele frequency: 3.70968041103259e-5
allele num: 107826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.276-29A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.276-29A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.276-29A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.276-29A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.224-29A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.276-29A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.85-29A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.276-29A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 18923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

1-38152154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152154
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152154
    reference: chr 1
allele count: 1
allele frequency: 9.338463262485525e-6
allele num: 107084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.85-30T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.276-30T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.276-30T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.276-30T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.276-30T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.276-30T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.276-30T>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.224-30T>C
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5466
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-38152155-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152155
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152155
    reference: chr 1
allele count: 2
allele frequency: 1.868181138843222e-5
allele num: 107056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.276-31A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.276-31A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.276-31A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.85-31A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.276-31A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.276-31A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.276-31A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.224-31A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-38152158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38152158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38152158
    reference: chr 1
allele count: 1
allele frequency: 9.42151874882231e-6
allele num: 106140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.224-34A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.85-34A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.276-34A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.276-34A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.276-34A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.276-34A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.276-34A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.276-34A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5835
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-38155237-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155237
    reference: chr 1
allele count: 1
allele frequency: 8.939746111210441e-6
allele num: 111860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.84+41T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.275+41T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+93T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.275+41T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.275+41T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.275+41T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.275+41T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.617T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.275+41T>G
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18709
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

1-38155249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155249
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155249
    reference: chr 1
allele count: 2
allele frequency: 1.78122940453501e-5
allele num: 112282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.275+29G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.605G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.275+29G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+81G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.275+29G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.275+29G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.275+29G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.275+29G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.84+29G>A
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18709
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-38155253-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155253
    reference: chr 1
allele count: 1
allele frequency: 8.88509791377901e-6
allele num: 112548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.84+25C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.275+25C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.275+25C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.275+25C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.275+25C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.275+25C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+77C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.275+25C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.601C>G
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18707
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-38155262-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155262
    reference: chr 1
allele count: 5
allele frequency: 4.419459765238297e-5
allele num: 113136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.275+16G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.275+16G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+68G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.592G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.275+16G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.84+16G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.275+16G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.275+16G>C
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.275+16G>C
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18706
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23911
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-38155265-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155265
    reference: chr 1
allele count: 27872
allele frequency: 2.418688604255615e-1
allele num: 115236
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.275+13C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.589C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.275+13C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+65C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.84+13C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.275+13C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.275+13C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.275+13C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.275+13C>G
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.25e1
  variant carriers: 822
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 18200
  bin: 2.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 3.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 7.5e0
  variant carriers: 425
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 2.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 20232
  bin: 9.75e1
  variant carriers: 20126
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 166
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 2.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 23667
  bin: 6.25e1
  variant carriers: 29
num of homozygotes: 3827
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-38155273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155273
    reference: chr 1
allele count: 1
allele frequency: 8.626043751293907e-6
allele num: 115928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.84+5G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.275+5G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.275+5G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.275+5G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.275+5G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.581G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+57G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.275+5G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.275+5G>A
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
hgvs: c.275+5G>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-38155275-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155275
    reference: chr 1
allele count: 1
allele frequency: 8.606296366421674e-6
allele num: 116194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.579A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.275+3A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.84+3A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.275+3A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.275+3A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.275+3A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.275+3A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.275+3A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+55A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29795
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
hgvs: c.275+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-38155278-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155278
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155278
    reference: chr 1
allele count: 1
allele frequency: 8.582659594555161e-6
allele num: 116514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.275T>G
  hgvsp: ENSP00000476779.1:p.Leu92Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.275T>G
  hgvsp: ENSP00000476341.1:p.Leu92Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.275T>G
  hgvsp: ENSP00000477011.1:p.Leu92Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.576T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.275T>G
  hgvsp: ENSP00000350704.4:p.Leu92Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+52T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.275T>G
  hgvsp: ENSP00000476934.1:p.Leu92Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.275T>G
  hgvsp: ENSP00000477159.1:p.Leu92Arg
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.84T>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu92Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

1-38155287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155287
    reference: chr 1
allele count: 71
allele frequency: 6.042347494553377e-4
allele num: 117504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.266G>A
  hgvsp: ENSP00000476779.1:p.Gly89Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.266G>A
  hgvsp: ENSP00000476341.1:p.Gly89Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.567G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.75G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.266G>A
  hgvsp: ENSP00000476934.1:p.Gly89Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.266G>A
  hgvsp: ENSP00000477159.1:p.Gly89Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.266G>A
  hgvsp: ENSP00000350704.4:p.Gly89Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+43G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.266G>A
  hgvsp: ENSP00000477011.1:p.Gly89Glu
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29926
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly89Glu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-38155289-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155289
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155289
    reference: chr 1
allele count: 10
allele frequency: 8.489685032685287e-5
allele num: 117790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.264A>G
  hgvsp: ENST00000486637.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.264A>G
  hgvsp: ENST00000358011.4:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.264A>G
  hgvsp: ENST00000491981.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.73A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.264A>G
  hgvsp: ENST00000461359.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.565A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.264A>G
  hgvsp: ENST00000464085.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+41A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.264A>G
  hgvsp: ENST00000477060.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40307
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu88Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-38155294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155294
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155294
    reference: chr 1
allele count: 4
allele frequency: 3.378892061293102e-5
allele num: 118382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.259A>G
  hgvsp: ENSP00000477011.1:p.Lys87Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.259A>G
  hgvsp: ENSP00000476341.1:p.Lys87Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.560A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.259A>G
  hgvsp: ENSP00000477159.1:p.Lys87Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.259A>G
  hgvsp: ENSP00000476934.1:p.Lys87Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.68A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.259A>G
  hgvsp: ENSP00000350704.4:p.Lys87Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.259A>G
  hgvsp: ENSP00000476779.1:p.Lys87Glu
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+36A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys87Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-38155301-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155301
    reference: chr 1
allele count: 1
allele frequency: 8.403220113947665e-6
allele num: 119002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.252C>G
  hgvsp: ENST00000461359.1:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.61C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.252C>G
  hgvsp: ENST00000464085.1:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+29C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.252C>G
  hgvsp: ENST00000491981.1:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.553C>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.252C>G
  hgvsp: ENST00000486637.1:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.252C>G
  hgvsp: ENST00000358011.4:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.252C>G
  hgvsp: ENST00000477060.1:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val84Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-38155306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155306
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155306
    reference: chr 1
allele count: 1
allele frequency: 8.370862701109976e-6
allele num: 119462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.247A>G
  hgvsp: ENSP00000477011.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.247A>G
  hgvsp: ENSP00000476779.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.247A>G
  hgvsp: ENSP00000477159.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.548A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.247A>G
  hgvsp: ENSP00000476341.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.247A>G
  hgvsp: ENSP00000476934.1:p.Ile83Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.56A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.247A>G
  hgvsp: ENSP00000350704.4:p.Ile83Val
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+24A>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile83Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-38155308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155308
    reference: chr 1
allele count: 2
allele frequency: 1.672296732332185e-5
allele num: 119596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.245A>G
  hgvsp: ENSP00000476341.1:p.Asp82Gly
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+22A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.245A>G
  hgvsp: ENSP00000476934.1:p.Asp82Gly
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.245A>G
  hgvsp: ENSP00000476779.1:p.Asp82Gly
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.245A>G
  hgvsp: ENSP00000477011.1:p.Asp82Gly
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.245A>G
  hgvsp: ENSP00000350704.4:p.Asp82Gly
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.546A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.54A>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.245A>G
  hgvsp: ENSP00000477159.1:p.Asp82Gly
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8343
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp82Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-38155310-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155310
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155310
    reference: chr 1
allele count: 51
allele frequency: 4.26100760297435e-4
allele num: 119690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.243T>G
  hgvsp: ENST00000486637.1:c.243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.243T>G
  hgvsp: ENST00000461359.1:c.243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.544T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.243T>G
  hgvsp: ENST00000477060.1:c.243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.243T>G
  hgvsp: ENST00000464085.1:c.243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.243T>G
  hgvsp: ENST00000358011.4:c.243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.52T>G
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477078
  ensembl transcript: ENST00000488137
  gene symbol: C1orf109
  hgvsc: ENST00000488137.1:c.243T>G
  hgvsp: ENST00000488137.1:c.243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.243T>G
  hgvsp: ENST00000491981.1:c.243T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+20T>G
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12546
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30476
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Gly81Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-38155319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155319
    reference: chr 1
allele count: 1388
allele frequency: 1.153475384768806e-2
allele num: 120332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.234G>A
  hgvsp: ENST00000358011.4:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.43G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.234G>A
  hgvsp: ENST00000477060.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.234G>A
  hgvsp: ENST00000491981.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.234G>A
  hgvsp: ENST00000486637.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.234G>A
  hgvsp: ENST00000461359.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000472584
  gene symbol: C1orf109
  hgvsc: ENST00000472584.1:n.721G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.223+11G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477078
  ensembl transcript: ENST00000488137
  gene symbol: C1orf109
  hgvsc: ENST00000488137.1:c.234G>A
  hgvsp: ENST00000488137.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.535G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.234G>A
  hgvsp: ENST00000464085.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 30796
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12775
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 917
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
hgvs: p.Leu78Leu
num of homozygotes: 83
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-38155331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38155331
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 38155331
    reference: chr 1
allele count: 3
allele frequency: 2.483567064589301e-5
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000350704
  ensembl transcript: ENST00000358011
  gene symbol: C1orf109
  hgvsc: ENST00000358011.4:c.222G>A
  hgvsp: ENST00000358011.4:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477159
  ensembl transcript: ENST00000464085
  gene symbol: C1orf109
  hgvsc: ENST00000464085.1:c.222G>A
  hgvsp: ENST00000464085.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476934
  ensembl transcript: ENST00000461359
  gene symbol: C1orf109
  hgvsc: ENST00000461359.1:c.222G>A
  hgvsp: ENST00000461359.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477011
  ensembl transcript: ENST00000491981
  gene symbol: C1orf109
  hgvsc: ENST00000491981.1:c.222G>A
  hgvsp: ENST00000491981.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477273
  ensembl transcript: ENST00000494120
  gene symbol: C1orf109
  hgvsc: ENST00000494120.1:c.222G>A
  hgvsp: ENST00000494120.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000477078
  ensembl transcript: ENST00000488137
  gene symbol: C1orf109
  hgvsc: ENST00000488137.1:c.222G>A
  hgvsp: ENST00000488137.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476779
  ensembl transcript: ENST00000486637
  gene symbol: C1orf109
  hgvsc: ENST00000486637.1:c.222G>A
  hgvsp: ENST00000486637.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000472584
  gene symbol: C1orf109
  hgvsc: ENST00000472584.1:n.709G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000491797
  gene symbol: C1orf109
  hgvsc: ENST00000491797.1:n.523G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116922
  ensembl transcript: ENST00000464178
  gene symbol: C1orf109
  hgvsc: ENST00000464178.1:n.31G>A
  variant of: http://identifiers.org/hgnc/26039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116922
  ensembl protein: ENSP00000476341
  ensembl transcript: ENST00000477060
  gene symbol: C1orf109
  hgvsc: ENST00000477060.1:c.222G>A
  hgvsp: ENST00000477060.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26039
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.222G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29582
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.457398833503698e-4
allele num: 66524
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.255e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 2.708824e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

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

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2445
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29561
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3600
bin: 9.25e1
variant carriers: 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: 10332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.014314067480604e-5
allele num: 66508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.361e0

QD
type: SiteQuality
SIO_000300: 1.239e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.707248e6

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29531
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4657
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.167e0

FS
type: SiteQuality
SIO_000300: 3.073e0

QD
type: SiteQuality
SIO_000300: 1.438e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 2.703911e6

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.823043266893534e-4
allele num: 16456
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.043e1

FS
type: SiteQuality
SIO_000300: 3.459e0

DP
type: SiteQuality
SIO_000300: 2.703353e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 1.576e1

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2501
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29531
bin: 9.75e1
variant carriers: 4

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.021194605009634e-5
allele num: 66432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.819e0

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.477e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.701349e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 3.305e0

VQSLOD
type: SiteQuality
SIO_000300: -8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.948e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.174e1

DP
type: SiteQuality
SIO_000300: 2.700152e6

GenotypeQuality
all individuals: 10057
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 502
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29528
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
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: 898
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

FS
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.698981e6

MQ
type: SiteQuality
SIO_000300: 6.011e1

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29526
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 698
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

QD
type: SiteQuality
SIO_000300: 1.372e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

FS
type: SiteQuality
SIO_000300: 1.099e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.692386e6

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9227
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 66238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.876e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.262e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.753e0

DP
type: SiteQuality
SIO_000300: 2.681089e6

VQSLOD
type: SiteQuality
SIO_000300: -1.541e0

QD
type: SiteQuality
SIO_000300: 1.51e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

GenotypeQuality
all individuals: 347
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3507
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8917
bin: 6.25e1
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: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.635999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 2.673923e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29514
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.16144018583043e-3
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

African
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: 6614
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.671106e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

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

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8329
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02416306287235e-5
allele num: 66134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
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: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 1.062e0

DP
type: SiteQuality
SIO_000300: 2.664303e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.960159362549801e-5
allele num: 10040
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.191950464396285e-5
allele num: 16150
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.204e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e0

FS
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 2.645431e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 658
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GenotypeQuality
all individuals: 29496
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5148760831364e-5
allele num: 66012
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 3.232e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 2.629765e6

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.234e0

GenotypeQuality
all individuals: 1599
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3259
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.038421599169263e-4
allele num: 9630
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 6.035469992881241e-4
allele num: 64618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.612546125461254e-4
allele num: 6504
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.156583629893238e-3
allele num: 11240
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
SIO_000300: 2.606184e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

QD
type: SiteQuality
SIO_000300: 8.84e0

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

GenotypeQuality
all individuals: 1586
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2230
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variant carriers: 0

GenotypeQuality
all individuals: 1971
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variant carriers: 0

GenotypeQuality
all individuals: 3374
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GenotypeQuality
all individuals: 3259
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547556408431087e-5
allele num: 64618
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 8.84e0

DP
type: SiteQuality
SIO_000300: 2.606184e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.82302111058446e-5
allele num: 54854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.121e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

DP
type: SiteQuality
SIO_000300: 1.093361e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.618e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.765848490199541e-5
allele num: 56630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 9.214891264283082e-4
allele num: 10852
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.149109e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.104e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 2.963e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 1.161294e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.668335001668335e-5
allele num: 59940
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6094
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East Asian
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.245207e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.098e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

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

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3123
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655519502019734e-5
allele num: 60404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.308e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.074136955291455e-5
allele num: 14136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61694
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 1.291509e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.237e0

FS
type: SiteQuality
SIO_000300: 4.591e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599539332672191e-5
allele num: 62518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.391e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.64e-1

DP
type: SiteQuality
SIO_000300: 1.308783e6

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 765
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549522746993926e-5
allele num: 64536
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.365235e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

GenotypeQuality
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 736
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3827
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64694
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.659832246039142e-4
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.137e0

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.068e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.372656e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

GenotypeQuality
all individuals: 666
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48111
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 619
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 646
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.036269430051813e-4
allele num: 9650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.141e0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

FS
type: SiteQuality
SIO_000300: 6.082e0

DP
type: SiteQuality
SIO_000300: 1.391955e6

QD
type: SiteQuality
SIO_000300: 1.483e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.056e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

GenotypeQuality
all individuals: 462
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 380
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 48232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 3.75e1
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: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65386
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.251877816725087e-4
allele num: 15976
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.994e0

DP
type: SiteQuality
SIO_000300: 1.393802e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 1947
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variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524901643843972e-5
allele num: 65578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 1.401815e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

GenotypeQuality
all individuals: 1899
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 1

GenotypeQuality
all individuals: 252
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GenotypeQuality
all individuals: 48831
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variant carriers: 0

GenotypeQuality
all individuals: 391
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variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523739867129884e-5
allele num: 65628
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.443e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 3.192e0

DP
type: SiteQuality
SIO_000300: 1.402672e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.143e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

GenotypeQuality
all individuals: 3974
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
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GenotypeQuality
all individuals: 503
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GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.563e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.38e-1

FS
type: SiteQuality
SIO_000300: 2.623e0

QD
type: SiteQuality
SIO_000300: 1.01e1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 1.406967e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

GenotypeQuality
all individuals: 809
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 458
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GenotypeQuality
all individuals: 396
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 369
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520727516043675e-5
allele num: 65758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.408076e6

VQSLOD
type: SiteQuality
SIO_000300: -7.549e-1

FS
type: SiteQuality
SIO_000300: 1.2284e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49816
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.018122581958868e-4
allele num: 9822
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51804960986125e-5
allele num: 65874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.412806e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49751
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517819197377208e-5
allele num: 65884
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.765e-1

DP
type: SiteQuality
SIO_000300: 1.413258e6

FS
type: SiteQuality
SIO_000300: 9.206e0

QD
type: SiteQuality
SIO_000300: 1.015e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 4045
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.019160211985324e-4
allele num: 9812
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.765e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

FS
type: SiteQuality
SIO_000300: 9.206e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.413258e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 322
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 458
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variant carriers: 1

GenotypeQuality
all individuals: 317
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.223549912870301e-5
allele num: 16068
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.417762e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 3.858e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.48e0

QD
type: SiteQuality
SIO_000300: 8.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 458
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variant carriers: 1

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 289
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.223549912870301e-5
allele num: 16068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.417762e6

FS
type: SiteQuality
SIO_000300: 3.858e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 8.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: -1.48e0

GenotypeQuality
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 391
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.702e1

DP
type: SiteQuality
SIO_000300: 1.418122e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516576177621402e-5
allele num: 65938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

DP
type: SiteQuality
SIO_000300: 1.418387e6

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.012965964343598e-4
allele num: 9872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.768e0

MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 316
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.012555690562981e-4
allele num: 9876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.0186e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.48e0

DP
type: SiteQuality
SIO_000300: 1.416593e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 395
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.475440222428174e-4
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.417901e6

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 3.365e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

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

GenotypeQuality
all individuals: 347
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 287
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.600170243813462e-5
allele num: 65788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.240639041437844e-5
allele num: 16024
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.531e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.519e0

DP
type: SiteQuality
SIO_000300: 1.416407e6

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

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

GenotypeQuality
all individuals: 49921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
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variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519664458087654e-5
allele num: 65804
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.231e0

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 1.41692e6

FS
type: SiteQuality
SIO_000300: 3.736e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.115e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.51e-1

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

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043306247907727e-5
allele num: 65718
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3852e1

QD
type: SiteQuality
SIO_000300: 1.167e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.413715e6

GenotypeQuality
all individuals: 337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49567
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
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variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522904483430799e-5
allele num: 65664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

FS
type: SiteQuality
SIO_000300: 1.505e0

DP
type: SiteQuality
SIO_000300: 1.412826e6

QD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.257e0

VQSLOD
type: SiteQuality
SIO_000300: -3.227e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
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variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 340
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.149116064565719e-5
allele num: 65050
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 5.096839959225281e-4
allele num: 15696
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.395766e6

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

GenotypeQuality
all individuals: 507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 541
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
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GenotypeQuality
all individuals: 455
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variant carriers: 3

GenotypeQuality
all individuals: 387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539314081645219e-5
allele num: 64964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.997660608241857e-5
allele num: 11114
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.39877143588431e-5
allele num: 15628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

FS
type: SiteQuality
SIO_000300: 2.159e0

DP
type: SiteQuality
SIO_000300: 1.392467e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 863
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
all individuals: 45220
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 5881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.25e1
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GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 264
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.663674665689687e-4
allele num: 10918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 1.346956e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.05e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.75e1
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GenotypeQuality
all individuals: 310
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 2059
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GenotypeQuality
all individuals: 2033
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
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variant carriers: 1

GenotypeQuality
all individuals: 560
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14302
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: 6256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612071189063709e-5
allele num: 62032
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.315e0

DP
type: SiteQuality
SIO_000300: 1.245555e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.31e0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
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GenotypeQuality
all individuals: 2647
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.793626707132018e-4
allele num: 10544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.130874556867337e-5
allele num: 61494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14074
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 2.514e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 1.204806e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5000
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13354
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.095290251916758e-4
allele num: 9130
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.914885347842985e-4
allele num: 10292
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.903e0

DP
type: SiteQuality
SIO_000300: 1.051518e6

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.549e1

GenotypeQuality
all individuals: 603
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
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variant carriers: 0

GenotypeQuality
all individuals: 7347
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 881
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13166
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-1

DP
type: SiteQuality
SIO_000300: 1.017981e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.298e1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 870
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 363
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variant carriers: 0

GenotypeQuality
all individuals: 3703
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
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GenotypeQuality
all individuals: 5470
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 412
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.285347043701799e-3
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.59762953958365e-5
allele num: 13162
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.017301e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.115e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 14861
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variant carriers: 0

GenotypeQuality
all individuals: 717
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variant carriers: 0

GenotypeQuality
all individuals: 8076
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variant carriers: 0

GenotypeQuality
all individuals: 19765
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12948
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.11185234600845e-4
allele num: 8994
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e0

DP
type: SiteQuality
SIO_000300: 9.90701e5

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 3.381e0

MQRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.126e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 520
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 22411
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variant carriers: 1

GenotypeQuality
all individuals: 2307
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 23551
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
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: 64270
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0809e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 4.093796e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e0

QD
type: SiteQuality
SIO_000300: 1.632e1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.996e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 276
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 100
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GenotypeQuality
all individuals: 1318
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5051
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GenotypeQuality
all individuals: 253
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64404
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.738828029907842e-4
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
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: 10264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

FS
type: SiteQuality
SIO_000300: 3.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.759e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

DP
type: SiteQuality
SIO_000300: 4.100404e6

GenotypeQuality
all individuals: 708
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 670
bin: 8.25e1
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: 810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551253412757508e-5
allele num: 64464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 1.003e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e0

QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 4.102585e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.689e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5067
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 132
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GenotypeQuality
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 56
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GenotypeQuality
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GenotypeQuality
all individuals: 1320
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GenotypeQuality
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GenotypeQuality
all individuals: 22413
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 369
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 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: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.191375414048231e-5
allele num: 64606
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: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10712
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.107954e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 250
bin: 3.25e1
variant carriers: 48

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 53

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 76

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 26

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 45

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 24572
bin: 9.75e1
variant carriers: 23784

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 61

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 52

GenotypeQuality
all individuals: 1236
bin: 7.75e1
variant carriers: 37

GenotypeQuality
all individuals: 253
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 24

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 43

GenotypeQuality
all individuals: 1346
bin: 7.25e1
variant carriers: 26

Latino
type: Population
allele count: 1409
allele frequency: 1.221393897364771e-1
allele num: 11536
num of homozygotes: 105

African
type: Population
allele count: 4100
allele frequency: 3.968253968253968e-1
allele num: 10332
num of homozygotes: 808

European (Finnish)
type: Population
allele count: 1654
allele frequency: 2.500755972180224e-1
allele num: 6614
num of homozygotes: 220

Other
type: Population
allele count: 190
allele frequency: 2.256532066508314e-1
allele num: 842
num of homozygotes: 24

East Asian
type: Population
allele count: 139
allele frequency: 1.615152219381827e-2
allele num: 8606
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 17801
allele frequency: 2.730130977577375e-1
allele num: 65202
num of homozygotes: 2409

South Asian
type: Population
allele count: 2579
allele frequency: 2.130700594844679e-1
allele num: 12104
num of homozygotes: 258

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

QD
type: SiteQuality
SIO_000300: 1.647e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.469e0

DP
type: SiteQuality
SIO_000300: 5.087614e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

GenotypeQuality
all individuals: 39004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 0

GenotypeQuality
all individuals: 536
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GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
all individuals: 495
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variant carriers: 0

GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 2871
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 2545
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 2173
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variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65352
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12610
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: 10340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.449e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 1.787818e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 3.605e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

VQSLOD
type: SiteQuality
SIO_000300: -6.371e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2871
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 2173
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 1974
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65414
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: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12804
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: 850
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

DP
type: SiteQuality
SIO_000300: 1.789432e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 2418
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8147
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variant carriers: 0

GenotypeQuality
all individuals: 39397
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variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526717557251908e-5
allele num: 65500
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.932e0

VQSLOD
type: SiteQuality
SIO_000300: -1.125e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 1.792286e6

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 5.88e-1

QD
type: SiteQuality
SIO_000300: 1.555e1

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 9.75e1
variant carriers: 70

GenotypeQuality
all individuals: 1981
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 2179
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variant carriers: 1

GenotypeQuality
all individuals: 1951
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
all individuals: 39932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
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GenotypeQuality
all individuals: 341
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8191
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variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.640371229698376e-3
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 9.44081336238199e-4
allele num: 13770
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.038601350181755e-3
allele num: 11554
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: 2
allele frequency: 1.931620629708325e-4
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.087353523055851e-4
allele num: 65710
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.585e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.803082e6

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
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GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 937
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variant carriers: 0

GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 357
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GenotypeQuality
all individuals: 8211
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variant carriers: 0

GenotypeQuality
all individuals: 406
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variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.216434023659642e-4
allele num: 65766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13988
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 1.797841e6

QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 8231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 89
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 349
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 396
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GenotypeQuality
all individuals: 1990
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GenotypeQuality
all individuals: 40784
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GenotypeQuality
all individuals: 2200
bin: 7.25e1
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GenotypeQuality
all individuals: 2798
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.551108953548348e-5
allele num: 65918
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.803293e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 1.121e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.495e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
all individuals: 286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
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GenotypeQuality
all individuals: 41262
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
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GenotypeQuality
all individuals: 937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 266
bin: 3.25e1
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GenotypeQuality
all individuals: 1293
bin: 2.25e1
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GenotypeQuality
all individuals: 2776
bin: 9.75e1
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 8296
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GenotypeQuality
all individuals: 2216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
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GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513775355737209e-5
allele num: 66060
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14910
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

DP
type: SiteQuality
SIO_000300: 1.810404e6

FS
type: SiteQuality
SIO_000300: 4.891e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511624391571182e-5
allele num: 66154
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.815856e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: -6.094000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.932740626207963e-4
allele num: 10348
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.569e0

QD
type: SiteQuality
SIO_000300: 4.3e0

FS
type: SiteQuality
SIO_000300: 6.8312e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.199e0

VQSLOD
type: SiteQuality
SIO_000300: -2.442e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.817318e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 9.75e1
variant carriers: 42

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 51
allele frequency: 4.932301740812379e-3
allele num: 10340
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

QD
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.181e0

FS
type: SiteQuality
SIO_000300: 1.24741e2

DP
type: SiteQuality
SIO_000300: 1.819617e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

VQSLOD
type: SiteQuality
SIO_000300: -7.381999999999999e1

GenotypeDepth
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variant carriers: 27

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1299

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 2203
bin: 7.25e1
variant carriers: 1

Other
type: Population
allele count: 4
allele frequency: 4.474272930648769e-3
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.920267784445583e-4
allele num: 66322
num of homozygotes: 0

Latino
type: Population
allele count: 64
allele frequency: 5.531547104580812e-3
allele num: 11570
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: 1291
allele frequency: 1.242540904716073e-1
allele num: 10390
num of homozygotes: 83

South Asian
type: Population
allele count: 3
allele frequency: 1.887267237040765e-4
allele num: 15896
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.493e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.54e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.842985e6

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.79e-2

FS
type: SiteQuality
SIO_000300: 1.192e0

QD
type: SiteQuality
SIO_000300: 1.375e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.994e0

GenotypeDepth
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 1737
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
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: 10378
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.843431240014748e-4
allele num: 16274
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 1.724344e6

MQ
type: SiteQuality
SIO_000300: 5.912e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.423e0