1-46086939-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086939
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086939
    reference: chr 1
allele count: 1
allele frequency: 3.444712366517396e-5
allele num: 29030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1361+14G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1292+14G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1292+14G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*889+14G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1388+14G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-154G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2123G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-834G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1815+14G>C
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-46086941-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086941
    reference: chr 1
allele count: 1
allele frequency: 3.414367659109533e-5
allele num: 29288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-836G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-156G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*889+12G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2121G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1815+12G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1388+12G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1361+12G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1292+12G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1292+12G>T
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

1-46086945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086945
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086945
    reference: chr 1
allele count: 2
allele frequency: 6.706008583690987e-5
allele num: 29824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2117G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1815+8G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1388+8G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*889+8G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-160G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1292+8G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1361+8G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1292+8G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-840G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30109
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1388+8G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-46086970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086970
    reference: chr 1
allele count: 3
allele frequency: 8.756056272254976e-5
allele num: 34262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1798C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1275C>T
  hgvsp: ENST00000479529.2:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-865C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-185C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1275C>T
  hgvsp: ENST00000343901.2:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*872C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2092C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1371C>T
  hgvsp: ENST00000528266.1:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1344C>T
  hgvsp: ENST00000421127.2:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser457Ser
num of homozygotes: 1
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-46086979-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086979
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086979
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 36376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1335C>A
  hgvsp: ENST00000421127.2:c.1335C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2083C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1266C>A
  hgvsp: ENST00000343901.2:c.1266C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1789C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-194C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*863C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1362C>A
  hgvsp: ENST00000528266.1:c.1362C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1266C>A
  hgvsp: ENST00000479529.2:c.1266C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-874C>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33286
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Ile454Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-46086986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086986
    reference: chr 1
allele count: 1
allele frequency: 2.658867322520606e-5
allele num: 37610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1328G>A
  hgvsp: ENSP00000389415.2:p.Cys443Tyr
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-201G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*856G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1259G>A
  hgvsp: ENSP00000437072.1:p.Cys420Tyr
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1355G>A
  hgvsp: ENSP00000432172.1:p.Cys452Tyr
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1259G>A
  hgvsp: ENSP00000341451.2:p.Cys420Tyr
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2076G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1782G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-881G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys452Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-46086987-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086987
    reference: chr 1
allele count: 12
allele frequency: 3.163722646981281e-4
allele num: 37930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1327T>G
  hgvsp: ENSP00000389415.2:p.Cys443Gly
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*855T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1258T>G
  hgvsp: ENSP00000437072.1:p.Cys420Gly
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1781T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1354T>G
  hgvsp: ENSP00000432172.1:p.Cys452Gly
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1258T>G
  hgvsp: ENSP00000341451.2:p.Cys420Gly
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2075T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-882T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-202T>G
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33149
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8065
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Cys452Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-46086987-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086987
    reference: chr 1
allele count: 1
allele frequency: 2.636435539151068e-5
allele num: 37930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1781T>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1258T>A
  hgvsp: ENSP00000341451.2:p.Cys420Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-202T>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1327T>A
  hgvsp: ENSP00000389415.2:p.Cys443Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*855T>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1258T>A
  hgvsp: ENSP00000437072.1:p.Cys420Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1354T>A
  hgvsp: ENSP00000432172.1:p.Cys452Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-882T>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2075T>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys452Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-46086988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086988
    reference: chr 1
allele count: 1
allele frequency: 2.635740643120717e-5
allele num: 37940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*854C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2074C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1780C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1353C>T
  hgvsp: ENST00000528266.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1257C>T
  hgvsp: ENST00000343901.2:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-883C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1326C>T
  hgvsp: ENST00000421127.2:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-203C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1257C>T
  hgvsp: ENST00000479529.2:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8066
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn451Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

1-46086991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086991
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086991
    reference: chr 1
allele count: 1
allele frequency: 2.616020509600795e-5
allele num: 38226
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1350C>T
  hgvsp: ENST00000528266.1:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1323C>T
  hgvsp: ENST00000421127.2:c.1323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1254C>T
  hgvsp: ENST00000343901.2:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1254C>T
  hgvsp: ENST00000479529.2:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-206C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*851C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2071C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1777C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-886C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly450Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-46086994-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086994
    reference: chr 1
allele count: 1
allele frequency: 2.561081800952722e-5
allele num: 39046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1320G>T
  hgvsp: ENSP00000389415.2:p.Met440Ile
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1347G>T
  hgvsp: ENSP00000432172.1:p.Met449Ile
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*848G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1251G>T
  hgvsp: ENSP00000437072.1:p.Met417Ile
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1251G>T
  hgvsp: ENSP00000341451.2:p.Met417Ile
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1774G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2068G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-209G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-889G>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32783
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7722
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met449Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

1-46086996-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46086996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46086996
    reference: chr 1
allele count: 1
allele frequency: 2.532414910858995e-5
allele num: 39488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1249A>C
  hgvsp: ENSP00000341451.2:p.Met417Leu
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1318A>C
  hgvsp: ENSP00000389415.2:p.Met440Leu
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2066A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-891A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1345A>C
  hgvsp: ENSP00000432172.1:p.Met449Leu
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1249A>C
  hgvsp: ENSP00000437072.1:p.Met417Leu
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-211A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1772A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*846A>C
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met449Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-46087002-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087002
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087002
    reference: chr 1
allele count: 44
allele frequency: 1.090296362374864e-3
allele num: 40356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1312G>T
  hgvsp: ENSP00000389415.2:p.Gly438Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1243G>T
  hgvsp: ENSP00000341451.2:p.Gly415Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*840G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-897G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1243G>T
  hgvsp: ENSP00000437072.1:p.Gly415Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2060G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1766G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-217G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1339G>T
  hgvsp: ENSP00000432172.1:p.Gly447Trp
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 32410
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Gly447Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-46087002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087002
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087002
    reference: chr 1
allele count: 1
allele frequency: 2.47794627812469e-5
allele num: 40356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*840G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-897G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1339G>A
  hgvsp: ENSP00000432172.1:p.Gly447Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1243G>A
  hgvsp: ENSP00000437072.1:p.Gly415Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1243G>A
  hgvsp: ENSP00000341451.2:p.Gly415Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2060G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1312G>A
  hgvsp: ENSP00000389415.2:p.Gly438Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1766G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-217G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly447Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

1-46087011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087011
    reference: chr 1
allele count: 1
allele frequency: 2.35094978371262e-5
allele num: 42536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*831C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1234C>T
  hgvsp: ENSP00000341451.2:p.Pro412Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2051C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1757C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1303C>T
  hgvsp: ENSP00000389415.2:p.Pro435Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1234C>T
  hgvsp: ENSP00000437072.1:p.Pro412Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-906C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1330C>T
  hgvsp: ENSP00000432172.1:p.Pro444Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-226C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro444Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

1-46087013-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087013
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 42568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2049C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1232C>A
  hgvsp: ENSP00000437072.1:p.Pro411His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1755C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-908C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1301C>A
  hgvsp: ENSP00000389415.2:p.Pro434His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*829C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-228C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1232C>A
  hgvsp: ENSP00000341451.2:p.Pro411His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1328C>A
  hgvsp: ENSP00000432172.1:p.Pro443His
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31907
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Pro443His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

1-46087014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087014
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087014
    reference: chr 1
allele count: 4
allele frequency: 9.346231132295901e-5
allele num: 42798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*828C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1231C>T
  hgvsp: ENSP00000341451.2:p.Pro411Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1327C>T
  hgvsp: ENSP00000432172.1:p.Pro443Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-229C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1754C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-909C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1231C>T
  hgvsp: ENSP00000437072.1:p.Pro411Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1300C>T
  hgvsp: ENSP00000389415.2:p.Pro434Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2048C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Pro443Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-46087036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087036
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087036
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 45618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1209C>T
  hgvsp: ENST00000343901.2:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-931C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-251C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1209C>T
  hgvsp: ENST00000479529.2:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1278C>T
  hgvsp: ENST00000421127.2:c.1278C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1732C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*806C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1305C>T
  hgvsp: ENST00000528266.1:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2026C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31003
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro435Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-46087042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087042
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087042
    reference: chr 1
allele count: 2
allele frequency: 4.332004851845434e-5
allele num: 46168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1299G>A
  hgvsp: ENST00000528266.1:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1272G>A
  hgvsp: ENST00000421127.2:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2020G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1203G>A
  hgvsp: ENST00000479529.2:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*800G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-937G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1203G>A
  hgvsp: ENST00000343901.2:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-257G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1726G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala433Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-46087043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087043
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087043
    reference: chr 1
allele count: 1
allele frequency: 2.151370422959425e-5
allele num: 46482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1202C>T
  hgvsp: ENSP00000341451.2:p.Ala401Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-258C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2019C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*799C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1725C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1298C>T
  hgvsp: ENSP00000432172.1:p.Ala433Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-938C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1202C>T
  hgvsp: ENSP00000437072.1:p.Ala401Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1271C>T
  hgvsp: ENSP00000389415.2:p.Ala424Val
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30894
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6031
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala433Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

1-46087058-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087058
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087058
    reference: chr 1
allele count: 1
allele frequency: 2.042817453832326e-5
allele num: 48952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*784C>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1283C>G
  hgvsp: ENSP00000432172.1:p.Thr428Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1187C>G
  hgvsp: ENSP00000437072.1:p.Thr396Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-953C>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1256C>G
  hgvsp: ENSP00000389415.2:p.Thr419Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1187C>G
  hgvsp: ENSP00000341451.2:p.Thr396Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.2004C>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-273C>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1710C>G
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr428Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-46087064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087064
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087064
    reference: chr 1
allele count: 2
allele frequency: 4.069175991861648e-5
allele num: 49150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1181G>A
  hgvsp: ENSP00000341451.2:p.Arg394Gln
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1704G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1998G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1181G>A
  hgvsp: ENSP00000437072.1:p.Arg394Gln
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-959G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1277G>A
  hgvsp: ENSP00000432172.1:p.Arg426Gln
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*778G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1250G>A
  hgvsp: ENSP00000389415.2:p.Arg417Gln
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-279G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg426Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-46087065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087065
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087065
    reference: chr 1
allele count: 2
allele frequency: 4.030795275907937e-5
allele num: 49618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1180C>T
  hgvsp: ENSP00000341451.2:p.Arg394Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-280C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1997C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*777C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-960C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1249C>T
  hgvsp: ENSP00000389415.2:p.Arg417Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1180C>T
  hgvsp: ENSP00000437072.1:p.Arg394Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1276C>T
  hgvsp: ENSP00000432172.1:p.Arg426Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1703C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg426Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

1-46087068-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087068
    reference: chr 1
allele count: 1
allele frequency: 2.014747955030826e-5
allele num: 49634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1177G>C
  hgvsp: ENSP00000437072.1:p.Gly393Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1246G>C
  hgvsp: ENSP00000389415.2:p.Gly416Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-283G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*774G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1994G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1177G>C
  hgvsp: ENSP00000341451.2:p.Gly393Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1700G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-963G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1273G>C
  hgvsp: ENSP00000432172.1:p.Gly425Arg
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly425Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-46087071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087071
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 49862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-286G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1697G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*771G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1174G>A
  hgvsp: ENSP00000341451.2:p.Asp392Asn
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1270G>A
  hgvsp: ENSP00000432172.1:p.Asp424Asn
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1174G>A
  hgvsp: ENSP00000437072.1:p.Asp392Asn
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1243G>A
  hgvsp: ENSP00000389415.2:p.Asp415Asn
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-966G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1991G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30317
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp424Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

1-46087072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087072
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087072
    reference: chr 1
allele count: 24
allele frequency: 4.80865558004408e-4
allele num: 49910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1242C>T
  hgvsp: ENST00000421127.2:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1990C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-967C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1269C>T
  hgvsp: ENST00000528266.1:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1173C>T
  hgvsp: ENST00000343901.2:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1696C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1173C>T
  hgvsp: ENST00000479529.2:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-287C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*770C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30307
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Arg423Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-46087073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087073
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087073
    reference: chr 1
allele count: 19
allele frequency: 3.796658940132683e-4
allele num: 50044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-288G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1989G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1172G>A
  hgvsp: ENSP00000341451.2:p.Arg391His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*769G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1241G>A
  hgvsp: ENSP00000389415.2:p.Arg414His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1695G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1268G>A
  hgvsp: ENSP00000432172.1:p.Arg423His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-968G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1172G>A
  hgvsp: ENSP00000437072.1:p.Arg391His
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7755
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30284
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9422
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg423His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-46087076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087076
    reference: chr 1
allele count: 10
allele frequency: 1.977066034005536e-4
allele num: 50580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1169C>T
  hgvsp: ENSP00000437072.1:p.Ala390Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1169C>T
  hgvsp: ENSP00000341451.2:p.Ala390Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1238C>T
  hgvsp: ENSP00000389415.2:p.Ala413Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*766C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-971C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1265C>T
  hgvsp: ENSP00000432172.1:p.Ala422Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-291C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1986C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1692C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala422Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-46087078-CAAGCCAGTCCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087067
    reference: chr 1
allele count: 1
allele frequency: 1.974723538704581e-5
allele num: 50640
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsp: ENSP00000432172.1:p.Arg418GlyfsTer54
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsp: ENSP00000389415.2:p.Arg409GlyfsTer54
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsp: ENSP00000437072.1:p.Arg386GlyfsTer54
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsp: ENSP00000341451.2:p.Arg386GlyfsTer54
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30006
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg418GlyfsTer54
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: CAAGCCAGTCCT
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-46087083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087083
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087083
    reference: chr 1
allele count: 1
allele frequency: 1.916810427448725e-5
allele num: 52170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1258G>A
  hgvsp: ENSP00000432172.1:p.Gly420Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-978G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1231G>A
  hgvsp: ENSP00000389415.2:p.Gly411Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1979G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1685G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*759G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1162G>A
  hgvsp: ENSP00000437072.1:p.Gly388Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1162G>A
  hgvsp: ENSP00000341451.2:p.Gly388Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-298G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly420Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-46087090-T-TGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087090
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087092
    reference: chr 1
allele count: 1
allele frequency: 1.896741398277759e-5
allele num: 52722
alternate allele: TGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-986_175-985insCC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1223_1224insCC
  hgvsp: ENSP00000389415.2:p.Arg409GlnfsTer66
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-306_143-305insCC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1154_1155insCC
  hgvsp: ENSP00000341451.2:p.Arg386GlnfsTer66
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1971_1972insCC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1250_1251insCC
  hgvsp: ENSP00000432172.1:p.Arg418GlnfsTer66
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1154_1155insCC
  hgvsp: ENSP00000437072.1:p.Arg386GlnfsTer66
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*751_*752insCC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1677_1678insCC
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29946
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg418GlnfsTer66
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-46087092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087092
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087092
    reference: chr 1
allele count: 1
allele frequency: 1.896885314313896e-5
allele num: 52718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1970C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-987C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1249C>T
  hgvsp: ENST00000528266.1:c.1249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1676C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1222C>T
  hgvsp: ENST00000421127.2:c.1222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*750C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-307C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1153C>T
  hgvsp: ENST00000479529.2:c.1153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1153C>T
  hgvsp: ENST00000343901.2:c.1153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu417Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-46087092-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087092
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087092
    reference: chr 1
allele count: 2
allele frequency: 3.793770628627793e-5
allele num: 52718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1153C>A
  hgvsp: ENSP00000437072.1:p.Leu385Ile
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*750C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-307C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1249C>A
  hgvsp: ENSP00000432172.1:p.Leu417Ile
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1153C>A
  hgvsp: ENSP00000341451.2:p.Leu385Ile
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1676C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-987C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1970C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1222C>A
  hgvsp: ENSP00000389415.2:p.Leu408Ile
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29916
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu417Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-46087112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087112
    reference: chr 1
allele count: 3
allele frequency: 5.814629608093964e-5
allele num: 51594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1656C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1202C>T
  hgvsp: ENSP00000389415.2:p.Ala401Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1950C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1133C>T
  hgvsp: ENSP00000341451.2:p.Ala378Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1133C>T
  hgvsp: ENSP00000437072.1:p.Ala378Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1229C>T
  hgvsp: ENSP00000432172.1:p.Ala410Val
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-327C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1007C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*730C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala410Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-46087112-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087112
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087111
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 51594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1132delG
  hgvsp: ENSP00000437072.1:p.Ala378LeufsTer8
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1949delG
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*729delG
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-328delG
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1228delG
  hgvsp: ENSP00000432172.1:p.Ala410LeufsTer8
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1132delG
  hgvsp: ENSP00000341451.2:p.Ala378LeufsTer8
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1008delG
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1201delG
  hgvsp: ENSP00000389415.2:p.Ala401LeufsTer8
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1655delG
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: frameshift
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29257
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala410LeufsTer8
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: GC
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-46087124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087124
    reference: chr 1
allele count: 1
allele frequency: 2.035416242621616e-5
allele num: 49130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1121G>A
  hgvsp: ENSP00000341451.2:p.Arg374Gln
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1644G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1190G>A
  hgvsp: ENSP00000389415.2:p.Arg397Gln
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1019G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1217G>A
  hgvsp: ENSP00000432172.1:p.Arg406Gln
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*718G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1121G>A
  hgvsp: ENSP00000437072.1:p.Arg374Gln
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1938G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-339G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28929
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg406Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-46087125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087125
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087125
    reference: chr 1
allele count: 3
allele frequency: 6.113964294448521e-5
allele num: 49068
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1216C>T
  hgvsp: ENSP00000432172.1:p.Arg406Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1020C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*717C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1120C>T
  hgvsp: ENSP00000341451.2:p.Arg374Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1643C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1120C>T
  hgvsp: ENSP00000437072.1:p.Arg374Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1189C>T
  hgvsp: ENSP00000389415.2:p.Arg397Trp
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-340C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1937C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28908
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg406Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-46087128-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087128
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087128
    reference: chr 1
allele count: 1
allele frequency: 2.053809817210926e-5
allele num: 48690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1934C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1023C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1213C>A
  hgvsp: ENSP00000432172.1:p.Leu405Met
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1186C>A
  hgvsp: ENSP00000389415.2:p.Leu396Met
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1640C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-343C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1117C>A
  hgvsp: ENSP00000341451.2:p.Leu373Met
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*714C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1117C>A
  hgvsp: ENSP00000437072.1:p.Leu373Met
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9224
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7178
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu405Met
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-46087133-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087132
    reference: chr 1
allele count: 1
allele frequency: 2.094504021447721e-5
allele num: 47744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1207delG
  hgvsp: ENSP00000432172.1:p.Asp403IlefsTer15
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1634delG
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1111delG
  hgvsp: ENSP00000437072.1:p.Asp371IlefsTer15
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*708delG
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-349delG
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1029delG
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1111delG
  hgvsp: ENSP00000341451.2:p.Asp371IlefsTer15
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1180delG
  hgvsp: ENSP00000389415.2:p.Asp394IlefsTer15
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1928delG
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp403IlefsTer15
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: TC
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-46087135-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087135
    reference: chr 1
allele count: 1
allele frequency: 2.106149957877001e-5
allele num: 47480
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1206T>G
  hgvsp: ENSP00000432172.1:p.Tyr402Ter
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1030T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1110T>G
  hgvsp: ENSP00000341451.2:p.Tyr370Ter
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1179T>G
  hgvsp: ENSP00000389415.2:p.Tyr393Ter
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1633T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1110T>G
  hgvsp: ENSP00000437072.1:p.Tyr370Ter
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-350T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*707T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1927T>G
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr402Ter
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-46087152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087152
    reference: chr 1
allele count: 1
allele frequency: 2.254486427991704e-5
allele num: 44356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1093G>A
  hgvsp: ENSP00000341451.2:p.Gly365Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1162G>A
  hgvsp: ENSP00000389415.2:p.Gly388Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1616G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1093G>A
  hgvsp: ENSP00000437072.1:p.Gly365Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*690G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-367G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1189G>A
  hgvsp: ENSP00000432172.1:p.Gly397Ser
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1910G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1047G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly397Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

1-46087158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087158
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087158
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 43552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-2A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1053A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1904A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-2A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-2A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-2A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-373A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1612-2A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-2A>G
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27102
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7398
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1185-2A>G
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-46087160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087160
    reference: chr 1
allele count: 2
allele frequency: 4.652461151949381e-5
allele num: 42988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-4C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-4C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-4C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-4C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-4C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1612-4C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-375C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1902C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1055C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26863
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 9.75e1
  variant carriers: 4
hgvs: c.1185-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-46087161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087161
    reference: chr 1
allele count: 1
allele frequency: 2.331437097827101e-5
allele num: 42892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1612-5C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-5C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-5C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-5C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-5C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-5C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-376C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1056C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1901C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11806
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1185-5C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-46087174-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087174
    reference: chr 1
allele count: 1
allele frequency: 2.437835202340322e-5
allele num: 41020
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-18A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-18A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-389A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-18A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1612-18A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1888A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-18A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-18A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1069A>G
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-46087187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087187
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087187
    reference: chr 1
allele count: 1
allele frequency: 2.504508114606291e-5
allele num: 39928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-31G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-31G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-31G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-31G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-402G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-31G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1082G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1875G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1612-31G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26418
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

1-46087189-C-CAACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087193
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 38690
alternate allele: CAACT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-37_1089-34dupAGTT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1869_1872dupAGTT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-408_143-405dupAGTT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1088_175-1085dupAGTT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1612-34_1611+37dupAGTT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-37_*686-34dupAGTT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-37_1158-34dupAGTT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-37_1185-34dupAGTT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-37_1089-34dupAGTT
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26482
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

1-46087198-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087198
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087198
    reference: chr 1
allele count: 1
allele frequency: 2.551671344730799e-5
allele num: 39190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-42A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-42A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-42A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-42A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-42A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-413A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1864A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1611+32A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1093A>G
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5884
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-46087199-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087199
    reference: chr 1
allele count: 2
allele frequency: 5.084659582040982e-5
allele num: 39334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1094G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1863G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-43G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-414G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-43G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-43G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-43G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1611+31G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-43G>C
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27518
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS

1-46087203-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087203
    reference: chr 1
allele count: 8
allele frequency: 2.012679883264567e-4
allele num: 39748
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1185-47G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*686-47G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1611+27G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1859G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1158-47G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1089-47G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1098G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-418G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1089-47G>C
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27932
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12084
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-46087263-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087263
    reference: chr 1
allele count: 2
allele frequency: 1.920491645861341e-5
allele num: 104140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+47T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-478T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1578T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+47T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1158T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+47T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+47T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1799T>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+47T>G
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16580
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

1-46087266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087266
    reference: chr 1
allele count: 1
allele frequency: 9.620750033672625e-6
allele num: 103942
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+44C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+44C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+44C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+44C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-481C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1161C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1796C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1575C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+44C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16514
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-46087271-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087271
    reference: chr 1
allele count: 1
allele frequency: 9.616124317255174e-6
allele num: 103992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1791G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+39G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+39G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+39G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-486G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+39G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1166G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1570G>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+39G>C
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12599
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-46087281-G-GAGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087285
    reference: chr 1
allele count: 14
allele frequency: 1.355669603950809e-4
allele num: 103270
alternate allele: GAGGC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+25_1184+28dupGCCT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-500_143-497dupGCCT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+25_*685+28dupGCCT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+25_1088+28dupGCCT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1777_1780dupGCCT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1556_1559dupGCCT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+25_1088+28dupGCCT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1180_175-1177dupGCCT
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+25_1157+28dupGCCT
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-46087282-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087282
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087282
    reference: chr 1
allele count: 4
allele frequency: 3.879051184080374e-5
allele num: 103118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+28T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+28T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1177T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-497T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1780T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+28T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1559T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+28T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+28T>C
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-46087284-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087284
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087284
    reference: chr 1
allele count: 1
allele frequency: 9.631127805065974e-6
allele num: 103830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1778C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+26C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1179C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+26C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+26C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1557C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-499C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+26C>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+26C>A
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13462
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18379
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-46087285-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087285
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087285
    reference: chr 1
allele count: 1
allele frequency: 9.610948792864832e-6
allele num: 104048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-500G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+25G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+25G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+25G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+25G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+25G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1180G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1777G>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1556G>T
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-46087286-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087286
    reference: chr 1
allele count: 8
allele frequency: 7.646721468170522e-5
allele num: 104620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1181A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+24A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+24A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+24A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+24A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1555A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-501A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+24A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1776A>C
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12575
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-46087287-GTCGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087282
    reference: chr 1
allele count: 1
allele frequency: 9.556757583287142e-6
allele num: 104638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1549_1553delTTCGA
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1770_1774delTTCGA
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+18_*685+22delTTCGA
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+18_1157+22delTTCGA
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+18_1184+22delTTCGA
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+18_1088+22delTTCGA
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-507_143-503delTTCGA
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+18_1088+22delTTCGA
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1187_175-1183delTTCGA
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: GTCGAA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-46087288-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087288
    reference: chr 1
allele count: 13
allele frequency: 1.264837517026659e-4
allele num: 102780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+22A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+22A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1774A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+22A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1553A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-503A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1183A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+22A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+22A>C
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20611
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

1-46087290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087290
    reference: chr 1
allele count: 2
allele frequency: 1.890109059292721e-5
allele num: 105814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+20C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-505C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1551C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+20C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+20C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+20C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+20C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1772C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1185C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-46087295-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087295
    reference: chr 1
allele count: 1
allele frequency: 9.379279296178881e-6
allele num: 106618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+15A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+15A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-510A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1767A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1190A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1546A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+15A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+15A>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+15A>C
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-46087298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087298
    reference: chr 1
allele count: 1
allele frequency: 9.230712426385068e-6
allele num: 108334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1764G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+12G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+12G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1543G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+12G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+12G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+12G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-513G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1193G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27547
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS

1-46087300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087300
    reference: chr 1
allele count: 3
allele frequency: 2.753405044238041e-5
allele num: 108956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-515G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1541G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+10G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+10G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+10G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1762G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1195G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+10G>A
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+10G>A
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28477
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-46087300-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087299
    reference: chr 1
allele count: 1
allele frequency: 9.178016814126803e-6
allele num: 108956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1540delC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1761delC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1196delC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+9delC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+9delC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-516delC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+9delC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+9delC
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+9delC
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: CG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

1-46087301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087301
    reference: chr 1
allele count: 2
allele frequency: 1.824984031389725e-5
allele num: 109590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+9C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1761C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1196C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+9C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-516C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+9C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+9C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+9C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1540C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-46087303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087303
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087303
    reference: chr 1
allele count: 3
allele frequency: 2.716800695500978e-5
allele num: 110424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1157+7C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1184+7C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1088+7C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-518C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1088+7C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1759C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*685+7C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1198C>T
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1538C>T
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30160
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1184+7C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

1-46087313-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087313
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087313
    reference: chr 1
allele count: 33
allele frequency: 2.901915264074289e-4
allele num: 113718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1528C>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1085C>G
  hgvsp: ENSP00000341451.2:p.Pro362Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-528C>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*682C>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1181C>G
  hgvsp: ENSP00000432172.1:p.Pro394Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1749C>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1085C>G
  hgvsp: ENSP00000437072.1:p.Pro362Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1154C>G
  hgvsp: ENSP00000389415.2:p.Pro385Arg
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1208C>G
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33277
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro394Arg
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-46087319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087319
    reference: chr 1
allele count: 1
allele frequency: 8.696559641006019e-6
allele num: 114988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1079A>G
  hgvsp: ENSP00000437072.1:p.Tyr360Cys
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1743A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1148A>G
  hgvsp: ENSP00000389415.2:p.Tyr383Cys
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1175A>G
  hgvsp: ENSP00000432172.1:p.Tyr392Cys
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1522A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-534A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1214A>G
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1079A>G
  hgvsp: ENSP00000341451.2:p.Tyr360Cys
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*676A>G
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr392Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-46087320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46087320
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46087320
    reference: chr 1
allele count: 4
allele frequency: 3.472403076549126e-5
allele num: 115194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000341451
  ensembl transcript: ENST00000343901
  gene symbol: CCDC17
  hgvsc: ENST00000343901.2:c.1078T>C
  hgvsp: ENSP00000341451.2:p.Tyr360His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000437072
  ensembl transcript: ENST00000479529
  gene symbol: CCDC17
  hgvsc: ENST00000479529.2:c.1078T>C
  hgvsp: ENSP00000437072.1:p.Tyr360His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000389415
  ensembl transcript: ENST00000421127
  gene symbol: CCDC17
  hgvsc: ENST00000421127.2:c.1147T>C
  hgvsp: ENSP00000389415.2:p.Tyr383His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000464739
  gene symbol: CCDC17
  hgvsc: ENST00000464739.1:n.143-535T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000482416
  gene symbol: CCDC17
  hgvsc: ENST00000482416.1:n.1742T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000159588
  ensembl transcript: ENST00000491755
  gene symbol: CCDC17
  hgvsc: ENST00000491755.1:n.1521T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000361114
  ensembl transcript: ENST00000372044
  gene symbol: CCDC17
  hgvsc: ENST00000372044.3:c.*675T>C
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000432172
  ensembl transcript: ENST00000528266
  gene symbol: CCDC17
  hgvsc: ENST00000528266.1:c.1174T>C
  hgvsp: ENSP00000432172.1:p.Tyr392His
  variant of: http://identifiers.org/hgnc/26574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000159588
  ensembl protein: ENSP00000411335
  ensembl transcript: ENST00000445048
  gene symbol: CCDC17
  hgvsc: ENST00000445048.2:c.175-1215T>C
  variant of: http://identifiers.org/hgnc/26574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr392His
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1090
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14935
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 892
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24948
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.697923643670462e-5
allele num: 14930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.359e0

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

DP
type: SiteQuality
SIO_000300: 5.40904e5

QD
type: SiteQuality
SIO_000300: 5.72e0

GenotypeQuality
all individuals: 860
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14595
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25740
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15064
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.282994090610637e-4
allele num: 3046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1494
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 5.47083e5

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 8.545e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.423e1

VQSLOD
type: SiteQuality
SIO_000300: -1.282e0

GenotypeQuality
all individuals: 249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2426
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13894
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2029
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.480881399870382e-4
allele num: 3086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

FS
type: SiteQuality
SIO_000300: 1.369e0

QD
type: SiteQuality
SIO_000300: 1.306e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 5.58678e5

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9630
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 215
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.437835202340322e-4
allele num: 8204
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.692167577413479e-5
allele num: 17568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

DP
type: SiteQuality
SIO_000300: 6.32778e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: -1.803e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 6.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.707e0

QD
type: SiteQuality
SIO_000300: 2.06e1

GenotypeQuality
all individuals: 492
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8607
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

DP
type: SiteQuality
SIO_000300: 6.54837e5

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 479
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6471
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
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GenotypeQuality
all individuals: 1253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 6.154e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

DP
type: SiteQuality
SIO_000300: 6.67602e5

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 32117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 893
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 6.113715100876299e-4
allele num: 19628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.104e1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 6.69748e5

GenotypeQuality
all individuals: 6626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.094762584063582e-5
allele num: 19628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

QD
type: SiteQuality
SIO_000300: 1.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 6.69748e5

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.092686901609289e-5
allele num: 19636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.358e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

QD
type: SiteQuality
SIO_000300: 1.054e1

DP
type: SiteQuality
SIO_000300: 6.7057e5

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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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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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: 400
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variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19724
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.173622704507513e-4
allele num: 2396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.83e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

DP
type: SiteQuality
SIO_000300: 6.74958e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
all individuals: 775
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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variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.035512510088781e-4
allele num: 2478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.948e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 6.82274e5

QD
type: SiteQuality
SIO_000300: 3.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.923e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

GenotypeQuality
all individuals: 502
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variant carriers: 0

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 6873
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variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1744
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.888541259288228e-5
allele num: 20456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.266e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.1e0

DP
type: SiteQuality
SIO_000300: 6.85811e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

GenotypeQuality
all individuals: 394
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 242
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GenotypeQuality
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variant carriers: 35

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 392
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GenotypeQuality
all individuals: 1670
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GenotypeQuality
all individuals: 153
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variant carriers: 2

GenotypeQuality
all individuals: 7258
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GenotypeQuality
all individuals: 138
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 594
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variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 6.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

African
type: Population
allele count: 40
allele frequency: 9.78952520802741e-3
allele num: 4086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.767353165522502e-5
allele num: 20976
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.67973124300112e-3
allele num: 1786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

DP
type: SiteQuality
SIO_000300: 6.97413e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

GenotypeQuality
all individuals: 2083
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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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GenotypeQuality
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GenotypeQuality
all individuals: 1670
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.447381302006853e-4
allele num: 4086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20976
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 6.97413e5

QD
type: SiteQuality
SIO_000300: 1.517e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.492362982929021e-5
allele num: 22260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.191e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 7.10175e5

QD
type: SiteQuality
SIO_000300: 1.648e1

GenotypeQuality
all individuals: 1750
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 260
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2130
bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.10112e5

QD
type: SiteQuality
SIO_000300: 1.937e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.556016597510373e-3
allele num: 1928
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.303086135421465e-4
allele num: 4342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22412
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

FS
type: SiteQuality
SIO_000300: 4.503e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

DP
type: SiteQuality
SIO_000300: 7.11794e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.34154e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.066467693796887e-5
allele num: 24794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9210
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.816e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 7.41674e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 3.91e0

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.067e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.359e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 630
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variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.000320025602048e-5
allele num: 24998
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.46073e5

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.236245954692557e-4
allele num: 3090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26644
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.495e0

QD
type: SiteQuality
SIO_000300: 1.624e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

DP
type: SiteQuality
SIO_000300: 7.70716e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.191e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.436602959767977e-5
allele num: 26894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.214e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

DP
type: SiteQuality
SIO_000300: 7.73872e5

QD
type: SiteQuality
SIO_000300: 3.61e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.684055408193339e-5
allele num: 27144
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.198976327575176e-4
allele num: 3126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.611e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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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
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27236
num of homozygotes: 0

South Asian
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allele frequency: 1.076889941847943e-4
allele num: 9286
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.006e0

BaseQRankSum
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SIO_000300: -2.024e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

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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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4772
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2422
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 27380
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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DP
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QD
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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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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variant carriers: 2

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

Other
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allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 3.216813210379584e-4
allele num: 9326
num of homozygotes: 0

Latino
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allele frequency: 4.11522633744856e-4
allele num: 2430
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East Asian
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allele count: 19
allele frequency: 6.085842408712364e-3
allele num: 3122
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.653368405670028e-5
allele num: 27372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 2.091175240485153e-4
allele num: 4782
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 17
allele frequency: 6.183617052233377e-4
allele num: 27492
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2434
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.475247524752475e-3
allele num: 404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-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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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: 2468
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 416
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African
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allele frequency: 2.077274615704196e-4
allele num: 4814
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9366
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European (Non-Finnish)
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allele count: 9
allele frequency: 3.229974160206718e-4
allele num: 27864
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2526
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.88685e5

BaseQRankSum
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SIO_000300: -2.119e0

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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East Asian
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allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 424
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Latino
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South Asian
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allele frequency: 1.067463706233988e-4
allele num: 9368
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
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MQ
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FS
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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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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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 28890
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European (Finnish)
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Latino
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Other
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South Asian
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African
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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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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European (Finnish)
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num of homozygotes: 0

African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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QD
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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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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -8.25e-1

MQRankSum
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InbreedingCoeff
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SIO_000300: 9.1e-3

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.008e0

MQ
type: SiteQuality
SIO_000300: 5.049e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

BaseQRankSum
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SIO_000300: -1.866e0

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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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: 2720
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3212
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 2.120441051738762e-4
allele num: 9432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29270
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.049e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.008e0

VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 8.08369e5

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

BaseQRankSum
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SIO_000300: -1.866e0

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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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.048657718120805e-4
allele num: 28608
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 3008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2662
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 7.85499e5

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-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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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: 430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2662
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

DP
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SIO_000300: 7.85499e5

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 5.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2526
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.673769287288758e-4
allele num: 2722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.255e0

DP
type: SiteQuality
SIO_000300: 7.5947e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 0.0e0

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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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 7.402472425790214e-5
allele num: 27018
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.088613106901807e-4
allele num: 9186
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InbreedingCoeff
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SIO_000300: -1.5e-2

ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQRankSum
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DP
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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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Other
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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allele frequency: 4.13564929693962e-4
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num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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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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variant carriers: 0

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

South Asian
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African
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Other
type: Population
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European (Finnish)
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allele num: 2470
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Latino
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East Asian
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MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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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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South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
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European (Finnish)
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.841425937307928e-5
allele num: 26032
num of homozygotes: 0

Other
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.156621498046388e-5
allele num: 24058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.01188e5

FS
type: SiteQuality
SIO_000300: 2.363e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.52e1

QD
type: SiteQuality
SIO_000300: 4.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.93e0

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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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -1.52e0

QD
type: SiteQuality
SIO_000300: 5.79e0

DP
type: SiteQuality
SIO_000300: 6.92181e5

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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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: 23174
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.094091903719912e-3
allele num: 1828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.8688e5

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1814
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.127904353710805e-4
allele num: 8866
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.774e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.432e0

DP
type: SiteQuality
SIO_000300: 6.86996e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.573728503476033e-5
allele num: 21864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.76e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.65964e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21130
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.399232245681382e-4
allele num: 4168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1492
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.55393e5

QD
type: SiteQuality
SIO_000300: 1.51e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 1.713e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.88e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8702
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 20332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.51211e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.86e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 0.0e0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2136
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

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

Latino
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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: 8758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.852484472049689e-5
allele num: 20608
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
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FS
type: SiteQuality
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QD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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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: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.835589941972921e-4
allele num: 4136
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8778
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.57389e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.61e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

VQSLOD
type: SiteQuality
SIO_000300: -5.018e-1

MQ
type: SiteQuality
SIO_000300: 5.811e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 9.643000000000001e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20956
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 1.928640308582449e-3
allele num: 4148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 6.65379e5

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: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.721585235685019e-5
allele num: 58086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14684
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.319957761351637e-4
allele num: 7576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.205524e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.372e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
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
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GenotypeQuality
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GenotypeQuality
all individuals: 2392
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.818491749624983e-5
allele num: 14666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.210374e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.652e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

QD
type: SiteQuality
SIO_000300: 1.476e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.818491749624983e-5
allele num: 14666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58024
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.22578e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

QD
type: SiteQuality
SIO_000300: 1.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.252486398447517e-4
allele num: 57714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.212121212121212e-4
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

FS
type: SiteQuality
SIO_000300: 6.21e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 1.271203e6

MQ
type: SiteQuality
SIO_000300: 5.521e1

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

GenotypeQuality
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bin: 9.25e1
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
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.93601525923357e-5
allele num: 57670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.317e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.275708e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
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: 14832
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.302083333333333e-4
allele num: 7680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58080
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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DP
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 3822
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718862800371275e-5
allele num: 58178
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.288e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.292446e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 5.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

GenotypeQuality
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bin: 4.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.38865687727334e-4
allele num: 14846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58526
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.075e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 1.657e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.30291e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-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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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.70870070398469e-5
allele num: 58524
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14852
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.310872e6

QD
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.568818853716358e-4
allele num: 57368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.725782414307004e-4
allele num: 8052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.284148012791229e-4
allele num: 4378
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.859e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

FS
type: SiteQuality
SIO_000300: 4.1596e1

VQSLOD
type: SiteQuality
SIO_000300: -1.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.048e0

DP
type: SiteQuality
SIO_000300: 1.305136e6

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.377807802736024e-5
allele num: 59210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 1.156e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

QD
type: SiteQuality
SIO_000300: 1.282e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 1.339205e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15016
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.676108745935436e-5
allele num: 59662
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.381292e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.203e0

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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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: 8680
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.922713399625874e-5
allele num: 60942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 2.444e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.1e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.426385e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

GenotypeQuality
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bin: 4.25e1
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: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640904466541958e-5
allele num: 60942
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 440
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.941370607649e-4
allele num: 10302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 1.439096e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.153e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 3.056e1

GenotypeQuality
all individuals: 1106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3893
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35851
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15320
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.884060757546626e-4
allele num: 10402
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.182e1

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.883e0

FS
type: SiteQuality
SIO_000300: 1.358e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.454136e6

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3914
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3934
bin: 6.75e1
variant carriers: 1

Latino
type: Population
allele count: 5
allele frequency: 4.645976584278015e-4
allele num: 10762
num of homozygotes: 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
allele num: 8496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.094243504839531e-4
allele num: 15704
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.152485735002049e-4
allele num: 63442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5434
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.198e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

FS
type: SiteQuality
SIO_000300: 5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

DP
type: SiteQuality
SIO_000300: 1.51481e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 654
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4046
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variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559867723217071e-5
allele num: 64108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 1.532899e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.862e1

VQSLOD
type: SiteQuality
SIO_000300: -6.696e-1