17-4885441-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885441
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885441
    reference: chr 17
allele count: 288
allele frequency: 2.448230133632562e-3
allele num: 117636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-315C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.354C>G
  hgvsp: ENSP00000321813.7:p.Cys118Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.360C>G
  hgvsp: ENSP00000370712.5:p.Cys120Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.421C>G
  hgvsp: ENSP00000458560.1:p.Leu141Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.427C>G
  hgvsp: ENSP00000460751.1:p.Leu143Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-404C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.423C>G
  hgvsp: ENSP00000412886.3:p.Cys141Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.349C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.354C>G
  hgvsp: ENSP00000350910.4:p.Cys118Trp
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.369C>G
  hgvsp: ENSP00000460779.1:p.Cys123Trp
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13985
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 26315
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 18
hgvs: p.Cys141Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

17-4885453-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885453
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885453
    reference: chr 17
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-327T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.409T>A
  hgvsp: ENSP00000458560.1:p.Ser137Thr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.342T>A
  hgvsp: ENSP00000350910.4:p.Cys114Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-416T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.348T>A
  hgvsp: ENSP00000370712.5:p.Cys116Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.342T>A
  hgvsp: ENSP00000321813.7:p.Cys114Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.415T>A
  hgvsp: ENSP00000460751.1:p.Ser139Thr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.357T>A
  hgvsp: ENSP00000460779.1:p.Cys119Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.411T>A
  hgvsp: ENSP00000412886.3:p.Cys137Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.337T>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys137Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-4885472-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885472
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885472
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 119046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.390A>C
  hgvsp: ENST00000574951.1:c.390A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-17A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-435A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-2A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-17A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.396A>C
  hgvsp: ENST00000573004.1:c.396A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.318A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-346A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-17A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-17A>C
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
hgvs: c.340-2A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-4885477-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885477
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885477
    reference: chr 17
allele count: 91
allele frequency: 8.040573973280554e-4
allele num: 113176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.391A>C
  hgvsp: ENSP00000460751.1:p.Thr131Pro
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-22A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-22A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-7A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-351A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-440A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-22A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.385A>C
  hgvsp: ENSP00000458560.1:p.Thr129Pro
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.313A>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-22A>C
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27259
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14188
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 8
hgvs: p.Thr129Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-4885477-T-TGGGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885477
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885482
    reference: chr 17
allele count: 55
allele frequency: 4.859687566268467e-4
allele num: 113176
alternate allele: TGGGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-27_346-23dupCCCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.386_390dupCCCCC
  hgvsp: ENSP00000460751.1:p.Thr131ProfsTer?
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.380_384dupCCCCC
  hgvsp: ENSP00000458560.1:p.Thr129ProfsTer1092
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.308_312dupCCCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-356_409-352dupCCCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-12_340-8dupCCCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-27_340-23dupCCCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-445_331-441dupCCCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-27_340-23dupCCCCC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-27_409-23dupCCCCC
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27259
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14188
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Thr129ProfsTer1092
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-4885478-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885478
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885478
    reference: chr 17
allele count: 5
allele frequency: 4.171115856914042e-5
allele num: 119872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-23C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-8C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.312C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-23C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-441C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.384C>G
  hgvsp: ENST00000574951.1:c.384C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-352C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.390C>G
  hgvsp: ENST00000573004.1:c.390C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-23C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-23C>G
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 0
hgvs: c.340-8C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-4885478-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885478
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885478
    reference: chr 17
allele count: 1
allele frequency: 8.342231713828083e-6
allele num: 119872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-23C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-441C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.384C>A
  hgvsp: ENST00000574951.1:c.384C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-8C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-23C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-23C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.312C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-352C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.390C>A
  hgvsp: ENST00000573004.1:c.390C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-23C>A
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
hgvs: c.340-8C>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

17-4885479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885479
    reference: chr 17
allele count: 1
allele frequency: 8.34306691139663e-6
allele num: 119860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-442C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.383C>T
  hgvsp: ENSP00000458560.1:p.Pro128Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-353C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.311C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.389C>T
  hgvsp: ENSP00000460751.1:p.Pro130Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-9C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-24C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro130Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-4885484-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885484
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885484
    reference: chr 17
allele count: 4
allele frequency: 3.35379146124694e-5
allele num: 119268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-358T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.306T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.384T>C
  hgvsp: ENST00000573004.1:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-29T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-29T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-29T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-447T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-29T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.378T>C
  hgvsp: ENST00000574951.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-14T>C
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro128Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-4885485-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885485
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885485
    reference: chr 17
allele count: 1
allele frequency: 8.377735330585436e-6
allele num: 119364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-359C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.383C>G
  hgvsp: ENSP00000460751.1:p.Pro128Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-30C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.305C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-30C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-30C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.377C>G
  hgvsp: ENSP00000458560.1:p.Pro126Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-30C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-448C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-15C>G
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro128Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-4885491-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885491
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885491
    reference: chr 17
allele count: 1
allele frequency: 8.389261744966442e-6
allele num: 119200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-365C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.371C>T
  hgvsp: ENSP00000458560.1:p.Thr124Ile
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.377C>T
  hgvsp: ENSP00000460751.1:p.Thr126Ile
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.299C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-454C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-21C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-36C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr126Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

17-4885503-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885503
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885503
    reference: chr 17
allele count: 1
allele frequency: 8.471417437565653e-6
allele num: 118044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.365T>C
  hgvsp: ENSP00000460751.1:p.Val122Ala
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.287T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.359T>C
  hgvsp: ENSP00000458560.1:p.Val120Ala
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-48T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-377T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-466T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-48T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-48T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-33T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-48T>C
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val120Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-4885504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885504
    reference: chr 17
allele count: 1
allele frequency: 8.486658972095866e-6
allele num: 117832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.358G>A
  hgvsp: ENSP00000458560.1:p.Val120Ile
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.286G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-467G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-49G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.364G>A
  hgvsp: ENSP00000460751.1:p.Val122Ile
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-34G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-49G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-49G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-378G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-49G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val120Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

17-4885505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885505
    reference: chr 17
allele count: 1
allele frequency: 8.512087163772557e-6
allele num: 117480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-50A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-50A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-50A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-35A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-468A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.357A>G
  hgvsp: ENST00000574951.1:c.357A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.363A>G
  hgvsp: ENST00000573004.1:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.285A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-379A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-50A>G
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg119Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-4885518-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885518
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885517
    reference: chr 17
allele count: 1
allele frequency: 8.865719807791194e-6
allele num: 112794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-393delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-64delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-64delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.349delC
  hgvsp: ENSP00000460751.1:p.Leu117Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.271delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-482delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.343delC
  hgvsp: ENSP00000458560.1:p.Leu115Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-49delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-64delC
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-64delC
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu115Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: AG
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-4885525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885525
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885525
    reference: chr 17
allele count: 1
allele frequency: 9.213193292795283e-6
allele num: 108540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.340-3A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.346-3A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.268-3A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-55A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-70A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-488A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-399A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-70A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-70A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-70A>G
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23683
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
hgvs: n.268-3A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-4885527-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885527
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885527
    reference: chr 17
allele count: 1
allele frequency: 9.333930704898446e-6
allele num: 107136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-490C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.268-5C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-72C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.340-5C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-72C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-72C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.346-5C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-401C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-72C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-57C>A
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22295
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
hgvs: n.268-5C>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-4885537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885537
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885537
    reference: chr 17
allele count: 98
allele frequency: 9.902590841113941e-4
allele num: 98964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-82G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.331-500G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-67G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.340-15G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-82G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-82G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.346-15G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-411G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-82G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.268-15G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13268
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22474
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-4885572-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4885572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4885572
    reference: chr 17
allele count: 1
allele frequency: 3.472463365511494e-5
allele num: 28798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.268-50G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.340-50G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.346-50G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.340-117G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.340-102G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.346-117G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.409-117G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.409-446G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+480G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.340-117G>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-4886004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886004
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886004
    reference: chr 17
allele count: 1
allele frequency: 8.489252606200551e-6
allele num: 117796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+48C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+48C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7820
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-4886007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886007
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886007
    reference: chr 17
allele count: 2
allele frequency: 1.696352841391009e-5
allele num: 117900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+45C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+45C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-4886008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886008
    reference: chr 17
allele count: 2
allele frequency: 1.695691248537466e-5
allele num: 117946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+44C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+44C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7519
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-4886010-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886010
    reference: chr 17
allele count: 1
allele frequency: 8.486514927779759e-6
allele num: 117834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+42C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+42C>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10096
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-4886016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886016
    reference: chr 17
allele count: 1
allele frequency: 8.463530646444471e-6
allele num: 118154
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+36C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+36C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-4886019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886019
    reference: chr 17
allele count: 3
allele frequency: 2.542329791020491e-5
allele num: 118002
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+33G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+33G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11677
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-4886020-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886020
    reference: chr 17
allele count: 1
allele frequency: 8.464103736055389e-6
allele num: 118146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+32C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+32C>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

17-4886024-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886024
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886024
    reference: chr 17
allele count: 32
allele frequency: 2.697781075065758e-4
allele num: 118616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+28T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+28T>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23779
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12473
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-4886028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886028
    reference: chr 17
allele count: 2
allele frequency: 1.68321831341525e-5
allele num: 118820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+24C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+24C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-4886029-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886029
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886029
    reference: chr 17
allele count: 4
allele frequency: 3.362418251206268e-5
allele num: 118962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+23T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+23T>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13059
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-4886030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886030
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886030
    reference: chr 17
allele count: 3
allele frequency: 2.520881300102516e-5
allele num: 119006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+22C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-4886035-ATATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886035
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886031
    reference: chr 17
allele count: 1
allele frequency: 8.373666493610892e-6
allele num: 119422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+13_330+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+13_345+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+13_339+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+13_408+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+13_267+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+13_339+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+13_345+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+13_339+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+13_339+16delGATA
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+13_408+16delGATA
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7406
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: ATATC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

17-4886037-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886037
    reference: chr 17
allele count: 90889
allele frequency: 7.530282191917016e-1
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+15T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+15T>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 3.25e1
  variant carriers: 9857
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 9.75e1
  variant carriers: 3414
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.25e1
  variant carriers: 455
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 1.75e1
  variant carriers: 2397
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 3.75e1
  variant carriers: 8644
genotype depth: GenotypeDepth
  all individuals: 10315
  bin: 2.75e1
  variant carriers: 9028
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.25e1
  variant carriers: 5998
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 5.25e1
  variant carriers: 2150
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 615
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.75e1
  variant carriers: 368
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 597
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 4.75e1
  variant carriers: 3706
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 2.25e1
  variant carriers: 5598
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 6.25e1
  variant carriers: 846
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.75e1
  variant carriers: 1317
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 9.25e1
  variant carriers: 2415
num of homozygotes: 35369
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-4886042-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886042
    reference: chr 17
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.339+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.339+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.330+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.267+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.345+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.408+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.339+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.408+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.345+10T>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.339+10T>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18379
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

17-4886057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886057
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886057
    reference: chr 17
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.325A>G
  hgvsp: ENSP00000459519.2:p.Met109Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.340A>G
  hgvsp: ENSP00000460751.1:p.Met114Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.262A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.334A>G
  hgvsp: ENSP00000460779.1:p.Met112Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.403A>G
  hgvsp: ENSP00000354828.5:p.Met135Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.403A>G
  hgvsp: ENSP00000412886.3:p.Met135Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.340A>G
  hgvsp: ENSP00000370712.5:p.Met114Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.334A>G
  hgvsp: ENSP00000321813.7:p.Met112Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.334A>G
  hgvsp: ENSP00000350910.4:p.Met112Val
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.334A>G
  hgvsp: ENSP00000458560.1:p.Met112Val
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met135Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

17-4886062-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886062
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886062
    reference: chr 17
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.329A>T
  hgvsp: ENSP00000458560.1:p.Gln110Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.335A>T
  hgvsp: ENSP00000460751.1:p.Gln112Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.320A>T
  hgvsp: ENSP00000459519.2:p.Gln107Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.398A>T
  hgvsp: ENSP00000354828.5:p.Gln133Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.329A>T
  hgvsp: ENSP00000321813.7:p.Gln110Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.398A>T
  hgvsp: ENSP00000412886.3:p.Gln133Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.329A>T
  hgvsp: ENSP00000350910.4:p.Gln110Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.335A>T
  hgvsp: ENSP00000370712.5:p.Gln112Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.329A>T
  hgvsp: ENSP00000460779.1:p.Gln110Leu
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.257A>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5620
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln133Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-4886064-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886064
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886064
    reference: chr 17
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.318C>A
  hgvsp: ENST00000574606.2:c.318C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.327C>A
  hgvsp: ENST00000358183.4:c.327C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.333C>A
  hgvsp: ENST00000573004.1:c.333C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.327C>A
  hgvsp: ENST00000572543.1:c.327C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.396C>A
  hgvsp: ENST00000414043.3:c.396C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.327C>A
  hgvsp: ENST00000574951.1:c.327C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.327C>A
  hgvsp: ENST00000348066.3:c.327C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.396C>A
  hgvsp: ENST00000361571.5:c.396C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.333C>A
  hgvsp: ENST00000381311.5:c.333C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.255C>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6930
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val132Val
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-4886100-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886100
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886100
    reference: chr 17
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.360G>T
  hgvsp: ENST00000361571.5:c.360G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.291G>T
  hgvsp: ENST00000358183.4:c.291G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.291G>T
  hgvsp: ENST00000572543.1:c.291G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.291G>T
  hgvsp: ENST00000348066.3:c.291G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.297G>T
  hgvsp: ENST00000573004.1:c.297G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.360G>T
  hgvsp: ENST00000414043.3:c.360G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.291G>T
  hgvsp: ENST00000574951.1:c.291G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.297G>T
  hgvsp: ENST00000381311.5:c.297G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.219G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.349G>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.282G>T
  hgvsp: ENST00000574606.2:c.282G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly120Gly
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

17-4886106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886106
    reference: chr 17
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.354G>A
  hgvsp: ENST00000414043.3:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.285G>A
  hgvsp: ENST00000358183.4:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.354G>A
  hgvsp: ENST00000361571.5:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.276G>A
  hgvsp: ENST00000574606.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.343G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.285G>A
  hgvsp: ENST00000348066.3:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.291G>A
  hgvsp: ENST00000381311.5:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.285G>A
  hgvsp: ENST00000574951.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.291G>A
  hgvsp: ENST00000573004.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.213G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.285G>A
  hgvsp: ENST00000572543.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys118Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

17-4886112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886112
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886112
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.279G>A
  hgvsp: ENST00000572543.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.348G>A
  hgvsp: ENST00000361571.5:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.348G>A
  hgvsp: ENST00000414043.3:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.279G>A
  hgvsp: ENST00000574951.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.279G>A
  hgvsp: ENST00000348066.3:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.207G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.270G>A
  hgvsp: ENST00000574606.2:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.285G>A
  hgvsp: ENST00000381311.5:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.285G>A
  hgvsp: ENST00000573004.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.279G>A
  hgvsp: ENST00000358183.4:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.337G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys116Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-4886118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886118
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886118
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.201G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.264G>A
  hgvsp: ENSP00000459519.2:p.Trp88Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.273G>A
  hgvsp: ENSP00000458560.1:p.Trp91Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.342G>A
  hgvsp: ENSP00000354828.5:p.Trp114Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.279G>A
  hgvsp: ENSP00000370712.5:p.Trp93Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.342G>A
  hgvsp: ENSP00000412886.3:p.Trp114Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.273G>A
  hgvsp: ENSP00000350910.4:p.Trp91Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.273G>A
  hgvsp: ENSP00000321813.7:p.Trp91Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.279G>A
  hgvsp: ENSP00000460751.1:p.Trp93Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.273G>A
  hgvsp: ENSP00000460779.1:p.Trp91Ter
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.331G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp114Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-4886137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886137
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.254G>A
  hgvsp: ENSP00000321813.7:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.254G>A
  hgvsp: ENSP00000350910.4:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.254G>A
  hgvsp: ENSP00000460779.1:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.260G>A
  hgvsp: ENSP00000460751.1:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.323G>A
  hgvsp: ENSP00000354828.5:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.182G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.254G>A
  hgvsp: ENSP00000458560.1:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.245G>A
  hgvsp: ENSP00000459519.2:p.Arg82Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.260G>A
  hgvsp: ENSP00000370712.5:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.323G>A
  hgvsp: ENSP00000412886.3:p.Arg108Gln
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.312G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg108Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

17-4886145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886145
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.246G>A
  hgvsp: ENST00000572543.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.246G>A
  hgvsp: ENST00000358183.4:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.315G>A
  hgvsp: ENST00000414043.3:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.174G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.252G>A
  hgvsp: ENST00000381311.5:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.304G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.246G>A
  hgvsp: ENST00000348066.3:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.246G>A
  hgvsp: ENST00000574951.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.252G>A
  hgvsp: ENST00000573004.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.315G>A
  hgvsp: ENST00000361571.5:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.237G>A
  hgvsp: ENST00000574606.2:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val105Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

17-4886166-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886166
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886166
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.153C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.225C>A
  hgvsp: ENST00000348066.3:c.225C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.294C>A
  hgvsp: ENST00000361571.5:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.225C>A
  hgvsp: ENST00000574951.1:c.225C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.231C>A
  hgvsp: ENST00000573004.1:c.231C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.283C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.225C>A
  hgvsp: ENST00000358183.4:c.225C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.231C>A
  hgvsp: ENST00000381311.5:c.231C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.225C>A
  hgvsp: ENST00000572543.1:c.225C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.216C>A
  hgvsp: ENST00000574606.2:c.216C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.294C>A
  hgvsp: ENST00000414043.3:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile98Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-4886172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886172
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.288C>G
  hgvsp: ENST00000361571.5:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.277C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.288C>G
  hgvsp: ENST00000414043.3:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.219C>G
  hgvsp: ENST00000348066.3:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.219C>G
  hgvsp: ENST00000572543.1:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.147C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.210C>G
  hgvsp: ENST00000574606.2:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.219C>G
  hgvsp: ENST00000574951.1:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.219C>G
  hgvsp: ENST00000358183.4:c.219C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.225C>G
  hgvsp: ENST00000573004.1:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.225C>G
  hgvsp: ENST00000381311.5:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser96Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-4886199-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886199
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.262-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.195-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.132-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.210-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.204-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.273-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.210-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.204-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.204-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.273-12T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.204-12T>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-4886201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886201
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.195-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.273-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.262-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.210-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.210-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.204-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.204-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.132-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.204-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.204-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.273-14C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-4886201-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886201
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.204-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.204-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.210-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.204-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.210-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.132-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.195-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.273-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.204-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.273-14C>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.262-14C>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-4886207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886207
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886207
    reference: chr 17
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.262-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.195-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.204-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.210-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.204-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.273-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.210-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.132-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.204-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.204-20G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.273-20G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-4886208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886208
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.210-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.204-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.204-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.132-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.195-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.204-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.204-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.273-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.210-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.262-21G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.273-21G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-4886217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886217
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886217
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.273-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.204-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.204-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.132-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.210-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.195-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.210-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.262-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.273-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.204-30A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.204-30A>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7119
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-4886218-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886218
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.262-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.273-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.195-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.204-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.132-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.210-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.210-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.204-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.204-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.273-31C>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.204-31C>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-4886227-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886227
    reference: chr 17
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.204-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.262-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.132-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.273-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.204-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.195-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.273-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.210-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.204-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.204-40T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.210-40T>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-4886234-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886234
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886234
    reference: chr 17
allele count: 35
allele frequency: 2.896200185356812e-4
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.203+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.272+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.131+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.203+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.209+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.272+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.203+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.203+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.209+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.194+37T>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.261+37T>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

17-4886242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886242
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886242
    reference: chr 17
allele count: 308
allele frequency: 2.537151141718014e-3
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.203+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.131+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.203+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.272+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.272+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.203+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.209+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.194+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.209+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.203+29G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.261+29G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 9.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 13287
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-4886245-TCCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886242
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.203+23_203+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.209+23_209+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.261+23_261+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.131+23_131+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.203+23_203+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.203+23_203+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.194+23_194+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.209+23_209+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.272+23_272+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.203+23_203+25delGGG
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.272+23_272+25delGGG
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: TCCC
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-4886247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886247
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.272+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.261+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.209+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.272+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.203+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.203+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.131+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.194+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.203+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.203+24G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.209+24G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-4886248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886248
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886248
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.209+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.272+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.209+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.203+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.203+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.261+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.203+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.272+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.131+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.194+23G>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.203+23G>C
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

17-4886252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886252
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886252
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.272+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.261+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.194+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.209+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.131+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.203+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.203+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.209+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.203+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.272+19A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.203+19A>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

17-4886279-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886279
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886279
    reference: chr 17
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.195A>G
  hgvsp: ENST00000358183.4:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.253A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.264A>G
  hgvsp: ENST00000361571.5:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.201A>G
  hgvsp: ENST00000381311.5:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.201A>G
  hgvsp: ENST00000573004.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.195A>G
  hgvsp: ENST00000572543.1:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.195A>G
  hgvsp: ENST00000348066.3:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.264A>G
  hgvsp: ENST00000414043.3:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.186A>G
  hgvsp: ENST00000574606.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.123A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.195A>G
  hgvsp: ENST00000574951.1:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro88Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-4886286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886286
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886286
    reference: chr 17
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.257G>A
  hgvsp: ENSP00000412886.3:p.Cys86Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.188G>A
  hgvsp: ENSP00000350910.4:p.Cys63Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.179G>A
  hgvsp: ENSP00000459519.2:p.Cys60Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.188G>A
  hgvsp: ENSP00000460779.1:p.Cys63Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.188G>A
  hgvsp: ENSP00000321813.7:p.Cys63Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.194G>A
  hgvsp: ENSP00000370712.5:p.Cys65Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.257G>A
  hgvsp: ENSP00000354828.5:p.Cys86Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.194G>A
  hgvsp: ENSP00000460751.1:p.Cys65Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.246G>A
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.188G>A
  hgvsp: ENSP00000458560.1:p.Cys63Tyr
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.116G>A
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys86Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

17-4886287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886287
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886287
    reference: chr 17
allele count: 10
allele frequency: 8.242392271933005e-5
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.115T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.187T>C
  hgvsp: ENSP00000321813.7:p.Cys63Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.187T>C
  hgvsp: ENSP00000458560.1:p.Cys63Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.256T>C
  hgvsp: ENSP00000354828.5:p.Cys86Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.178T>C
  hgvsp: ENSP00000459519.2:p.Cys60Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.256T>C
  hgvsp: ENSP00000412886.3:p.Cys86Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.193T>C
  hgvsp: ENSP00000460751.1:p.Cys65Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.193T>C
  hgvsp: ENSP00000370712.5:p.Cys65Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.245T>C
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.187T>C
  hgvsp: ENSP00000350910.4:p.Cys63Arg
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.187T>C
  hgvsp: ENSP00000460779.1:p.Cys63Arg
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys86Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

17-4886318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886318
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886318
    reference: chr 17
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.156C>T
  hgvsp: ENST00000358183.4:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.225C>T
  hgvsp: ENST00000361571.5:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.225C>T
  hgvsp: ENST00000414043.3:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.156C>T
  hgvsp: ENST00000348066.3:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.156C>T
  hgvsp: ENST00000572543.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.156C>T
  hgvsp: ENST00000574951.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.214C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.162C>T
  hgvsp: ENST00000381311.5:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.84C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.147C>T
  hgvsp: ENST00000574606.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.162C>T
  hgvsp: ENST00000573004.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile75Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

17-4886324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886324
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886324
    reference: chr 17
allele count: 8
allele frequency: 6.603929337956083e-5
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.219C>T
  hgvsp: ENST00000361571.5:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.219C>T
  hgvsp: ENST00000414043.3:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.208C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.156C>T
  hgvsp: ENST00000381311.5:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.78C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.150C>T
  hgvsp: ENST00000358183.4:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.150C>T
  hgvsp: ENST00000574951.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.141C>T
  hgvsp: ENST00000574606.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.150C>T
  hgvsp: ENST00000348066.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.156C>T
  hgvsp: ENST00000573004.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.150C>T
  hgvsp: ENST00000572543.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: p.Tyr73Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

17-4886342-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886342
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886342
    reference: chr 17
allele count: 2
allele frequency: 1.652428243303535e-5
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.64-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.136-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.190A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.142-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.205-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.136-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.142-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.136-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.205-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.127-4A>G
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.136-4A>G
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.205-4A>G
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

17-4886344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886344
    reference: chr 17
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.205-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.205-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.127-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.64-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.136-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.136-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.142-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.142-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.136-6C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.188C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.136-6C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.205-6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-4886345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886345
    reference: chr 17
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.205-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.142-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.136-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.127-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.136-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.136-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.142-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.205-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.136-7C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.187C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.64-7C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.205-7C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-4886352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886352
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886352
    reference: chr 17
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.205-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.136-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.136-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.136-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.180C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.142-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.127-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.142-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.64-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.205-14C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.136-14C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

17-4886360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886360
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 4886360
    reference: chr 17
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000354828
  ensembl transcript: ENST00000361571
  gene symbol: CAMTA2
  hgvsc: ENST00000361571.5:c.205-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460779
  ensembl transcript: ENST00000572543
  gene symbol: CAMTA2
  hgvsc: ENST00000572543.1:c.136-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000459519
  ensembl transcript: ENST00000574606
  gene symbol: CAMTA2
  hgvsc: ENST00000574606.2:c.127-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000350910
  ensembl transcript: ENST00000358183
  gene symbol: CAMTA2
  hgvsc: ENST00000358183.4:c.136-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000458560
  ensembl transcript: ENST00000574951
  gene symbol: CAMTA2
  hgvsc: ENST00000574951.1:c.136-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000412886
  ensembl transcript: ENST00000414043
  gene symbol: CAMTA2
  hgvsc: ENST00000414043.3:c.205-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000575580
  gene symbol: CAMTA2
  hgvsc: ENST00000575580.1:n.172C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000370712
  ensembl transcript: ENST00000381311
  gene symbol: CAMTA2
  hgvsc: ENST00000381311.5:c.142-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl transcript: ENST00000571831
  gene symbol: CAMTA2
  hgvsc: ENST00000571831.1:n.64-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000321813
  ensembl transcript: ENST00000348066
  gene symbol: CAMTA2
  hgvsc: ENST00000348066.3:c.136-22C>T
  variant of: http://identifiers.org/hgnc/18807
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108509
  ensembl protein: ENSP00000460751
  ensembl transcript: ENST00000573004
  gene symbol: CAMTA2
  hgvsc: ENST00000573004.1:c.142-22C>T
  variant of: http://identifiers.org/hgnc/18807
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-4886362-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4886362
    reference: chr 17
allele count: 12
allele frequency: 9.924244930364882e-5
allele num: 120916
alternate allele: T
canonical: false
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 0
reference allele: TG

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 8174
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 256
bin: 2.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1294
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 11

GenotypeQuality
all individuals: 1944
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 262
bin: 3.25e1
variant carriers: 12

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 39568
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 146
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1060
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 16

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 620
bin: 2.25e1
variant carriers: 13

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1822
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 689
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 3073
bin: 9.75e1
variant carriers: 102

Latino
type: Population
allele count: 6
allele frequency: 5.231037489102005e-4
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.17184216670558e-4
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 34
allele frequency: 3.479328694228408e-3
allele num: 9772
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.868544600938967e-3
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 75
allele frequency: 1.242133156674395e-2
allele num: 6038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 160
allele frequency: 2.482852797864747e-3
allele num: 64442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.640000000000001e1

QD
type: SiteQuality
SIO_000300: 8.7e-1

DP
type: SiteQuality
SIO_000300: 1.952772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

FS
type: SiteQuality
SIO_000300: 1.42985e2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 5.837e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.555e0

GenotypeQuality
all individuals: 750
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1890
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2025
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.632e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.517e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.882753e6

MQRankSum
type: SiteQuality
SIO_000300: -1.513e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

GenotypeQuality
all individuals: 510
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8059
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.354e0

MQ
type: SiteQuality
SIO_000300: 5.817e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 1.865086e6

FS
type: SiteQuality
SIO_000300: 2.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.905e0

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

QD
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1432
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 449
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2395
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 39512
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1519
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 537
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 351
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 714
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 373
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 7576
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 639
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1234
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 686
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 450
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 637
bin: 4.75e1
variant carriers: 7

Latino
type: Population
allele count: 9
allele frequency: 8.460236886632825e-4
allele num: 10638
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.114315679077084e-3
allele num: 15256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.105296745373325e-4
allele num: 62680
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.25e-4
allele num: 8000
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.210653753026634e-3
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.159359190556492e-3
allele num: 9488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.544529262086514e-3
allele num: 6288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -4.239e0

FS
type: SiteQuality
SIO_000300: 3.5957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.343e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.345e0

DP
type: SiteQuality
SIO_000300: 1.878961e6

QD
type: SiteQuality
SIO_000300: 9.2e-1

GenotypeQuality
all individuals: 1234
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 604
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 449
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 686
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39512
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2395
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 7576
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1432
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 351
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 450
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 637
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 537
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 639
bin: 3.25e1
variant carriers: 1

Latino
type: Population
allele count: 18
allele frequency: 1.692047377326565e-3
allele num: 10638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.393107849393746e-4
allele num: 62680
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.210653753026634e-3
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.107925801011804e-4
allele num: 9488
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.75e-4
allele num: 8000
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 7.210277923439958e-4
allele num: 15256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.590330788804071e-4
allele num: 6288
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

VQSLOD
type: SiteQuality
SIO_000300: -4.239e0

FS
type: SiteQuality
SIO_000300: 3.5957e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.343e0

DP
type: SiteQuality
SIO_000300: 1.878961e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.345e0

GenotypeQuality
all individuals: 1488
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216693028348948e-4
allele num: 16438
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03960606705371e-5
allele num: 65798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.208e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.774e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.726e0

DP
type: SiteQuality
SIO_000300: 1.723002e6

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

GenotypeQuality
all individuals: 8596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 652
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
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

African
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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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num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -4.774e0

ReadPosRankSum
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SIO_000300: 2.27e0

MQRankSum
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SIO_000300: 3.83e-1

MQ
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QD
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ClippingRankSum
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SIO_000300: -1.726e0

FS
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VQSLOD
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DP
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SIO_000300: 1.723002e6

InbreedingCoeff
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SIO_000300: 4.0e-4

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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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6596
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: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 5.54e-1

FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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SIO_000300: 4.09e-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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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.960159362549801e-5
allele num: 10040
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.527463799107961e-5
allele num: 65468
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.523461304082876e-4
allele num: 6564
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 1.123595505617978e-3
allele num: 890
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MQ
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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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
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.526158354190831e-5
allele num: 65524
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
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SIO_000300: -7.0e-4

MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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BaseQRankSum
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SIO_000300: -2.527e0

QD
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SIO_000300: 1.601e1

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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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.528677999266235e-5
allele num: 65416
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.679153e6

InbreedingCoeff
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SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.881e1

BaseQRankSum
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SIO_000300: -2.727e0

MQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.402e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.542353013757789e-5
allele num: 64836
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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BaseQRankSum
type: SiteQuality
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Latino
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Other
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African
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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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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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FS
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MQ
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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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GenotypeQuality
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European (Finnish)
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allele num: 6488
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East Asian
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Latino
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European (Non-Finnish)
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Other
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African
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South Asian
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QD
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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Latino
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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Latino
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Other
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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European (Non-Finnish)
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FS
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 1.780911535945337e-3
allele num: 55028
num of homozygotes: 0

Latino
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South Asian
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African
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QD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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FS
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DP
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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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GenotypeQuality
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African
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allele frequency: 4.166666666666667e-4
allele num: 2400
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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ReadPosRankSum
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FS
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QD
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VQSLOD
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DP
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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num of homozygotes: 0

East Asian
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South Asian
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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FS
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DP
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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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GenotypeQuality
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Latino
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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QD
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4199
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.906305664410402e-5
allele num: 11228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.879e-1

DP
type: SiteQuality
SIO_000300: 1.673367e6

FS
type: SiteQuality
SIO_000300: 1.599e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.582e0

QD
type: SiteQuality
SIO_000300: 7.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

GenotypeQuality
all individuals: 3754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7849
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535202186127913e-5
allele num: 65138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.275e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.261e0

DP
type: SiteQuality
SIO_000300: 1.705721e6

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 1644
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
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GenotypeQuality
all individuals: 2500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 3476
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53666482266888e-5
allele num: 65076
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.779042874933286e-4
allele num: 11242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

FS
type: SiteQuality
SIO_000300: 1.0421e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 1.726499e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
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: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7875
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variant carriers: 1

GenotypeQuality
all individuals: 1142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20133
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.298022420959819e-5
allele num: 15878
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

FS
type: SiteQuality
SIO_000300: 2.723e0

DP
type: SiteQuality
SIO_000300: 1.737222e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

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

GenotypeQuality
all individuals: 23
bin: 2.5e0
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GenotypeQuality
all individuals: 7916
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 901
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
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variant carriers: 0

GenotypeQuality
all individuals: 3021
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2776
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variant carriers: 0

GenotypeQuality
all individuals: 6754
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variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 3.152709359605912e-3
allele num: 10150
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 1.766477e6

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 1058
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 3119
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 2859
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variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.057169061449098e-5
allele num: 65420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 2.436e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 1.153e1

DP
type: SiteQuality
SIO_000300: 1.785479e6

GenotypeQuality
all individuals: 7072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7924
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 24747
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variant carriers: 0

GenotypeQuality
all individuals: 660
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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
all individuals: 999
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1474
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variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526670941345302e-5
allele num: 65502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.2266500622665e-5
allele num: 16060
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.322880371660859e-4
allele num: 8610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 1.790967e6

GenotypeQuality
all individuals: 2949
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 715
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variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65508
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.865671641791045e-4
allele num: 16080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: -2.576e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.856e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 2.825e1

DP
type: SiteQuality
SIO_000300: 1.796003e6

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 3.25e1
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GenotypeQuality
all individuals: 1585
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variant carriers: 0

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 1313
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
all individuals: 411
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 7991
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3324
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GenotypeQuality
all individuals: 4401
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521282745611099e-5
allele num: 65734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -4.364e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.645e0

VQSLOD
type: SiteQuality
SIO_000300: -1.05e-2

FS
type: SiteQuality
SIO_000300: 3.407e0

DP
type: SiteQuality
SIO_000300: 1.820735e6

QD
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.454e1

GenotypeQuality
all individuals: 645
bin: 4.75e1
variant carriers: 605

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 32

GenotypeQuality
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bin: 1.75e1
variant carriers: 75

GenotypeQuality
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variant carriers: 1389

GenotypeQuality
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bin: 2.25e1
variant carriers: 102

GenotypeQuality
all individuals: 975
bin: 5.25e1
variant carriers: 929

GenotypeQuality
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variant carriers: 2196

GenotypeQuality
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bin: 3.75e1
variant carriers: 337

GenotypeQuality
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variant carriers: 43

GenotypeQuality
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variant carriers: 39729

GenotypeQuality
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variant carriers: 1370

GenotypeQuality
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bin: 6.75e1
variant carriers: 1725

GenotypeQuality
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bin: 5.75e1
variant carriers: 620

GenotypeQuality
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bin: 3.25e1
variant carriers: 172

GenotypeQuality
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bin: 7.25e1
variant carriers: 1109

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 257

GenotypeQuality
all individuals: 2832
bin: 8.25e1
variant carriers: 2526

African
type: Population
allele count: 9712
allele frequency: 9.361866203971467e-1
allele num: 10374
num of homozygotes: 4546

East Asian
type: Population
allele count: 4189
allele frequency: 4.874330928554806e-1
allele num: 8594
num of homozygotes: 995

European (Finnish)
type: Population
allele count: 4670
allele frequency: 7.153799019607843e-1
allele num: 6528
num of homozygotes: 1662

South Asian
type: Population
allele count: 8320
allele frequency: 5.071315372424723e-1
allele num: 16406
num of homozygotes: 2171

Latino
type: Population
allele count: 9358
allele frequency: 8.144473455178416e-1
allele num: 11490
num of homozygotes: 3803

European (Non-Finnish)
type: Population
allele count: 53981
allele frequency: 8.12893413245791e-1
allele num: 66406
num of homozygotes: 21953

Other
type: Population
allele count: 659
allele frequency: 7.322222222222222e-1
allele num: 900
num of homozygotes: 239

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 2.570644e6

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.54e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 2.859e1

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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GenotypeQuality
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GenotypeQuality
all individuals: 10954
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variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.613e0

MQ
type: SiteQuality
SIO_000300: 5.426e1

VQSLOD
type: SiteQuality
SIO_000300: -3.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 2.193437e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
SIO_000300: 3.07e0

FS
type: SiteQuality
SIO_000300: 1.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 8
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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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GenotypeQuality
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GenotypeQuality
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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: 121
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variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.208673e6

QD
type: SiteQuality
SIO_000300: 1.473e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 2726
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 188
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GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 3800
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.213856e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.837e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
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SIO_000300: 3.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.024e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.215467e6

QD
type: SiteQuality
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MQRankSum
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SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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SIO_000300: 3.66e-1

DP
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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SIO_000300: 1.77e-1

FS
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SIO_000300: 1.203e0

DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

European (Finnish)
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Latino
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African
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South Asian
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East Asian
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Other
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ClippingRankSum
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QD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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African
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Latino
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Other
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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Latino
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European (Non-Finnish)
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Other
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East Asian
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African
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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QD
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VQSLOD
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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East Asian
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South Asian
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VQSLOD
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QD
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FS
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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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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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.232285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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SIO_000300: 1.413e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-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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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: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
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allele count: 0
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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South Asian
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VQSLOD
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ReadPosRankSum
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SIO_000300: -3.86e-1

BaseQRankSum
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MQ
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SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 5.55e0

InbreedingCoeff
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SIO_000300: 6.4e-3

MQRankSum
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DP
type: SiteQuality
SIO_000300: 2.232616e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

East Asian
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South Asian
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MQ
type: SiteQuality
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FS
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 2.97e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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DP
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ReadPosRankSum
type: SiteQuality
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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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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: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 1
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allele num: 890
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European (Non-Finnish)
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allele count: 24
allele frequency: 3.609673926122007e-4
allele num: 66488
num of homozygotes: 0

Latino
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East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
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European (Finnish)
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allele count: 2
allele frequency: 3.095975232198143e-4
allele num: 6460
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South Asian
type: Population
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African
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allele count: 7
allele frequency: 6.793478260869565e-4
allele num: 10304
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BaseQRankSum
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QD
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DP
type: SiteQuality
SIO_000300: 2.245919e6

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

FS
type: SiteQuality
SIO_000300: 2.29582e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: -2.44e2

GenotypeQuality
all individuals: 2762
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5263
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18619
bin: 9.75e1
variant carriers: 307

GenotypeQuality
all individuals: 5766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4045
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3826
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 272
allele frequency: 4.075883357808613e-3
allele num: 66734
num of homozygotes: 1

African
type: Population
allele count: 6
allele frequency: 5.771450557906887e-4
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.663138796492289e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.689922480620155e-4
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.260328e6

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 1.133e0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.783e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.386e1

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

GenotypeQuality
all individuals: 4057
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18496
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7113
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.877e0

DP
type: SiteQuality
SIO_000300: 2.231078e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

MQ
type: SiteQuality
SIO_000300: 5.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e-1

GenotypeQuality
all individuals: 4057
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2770
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18496
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13307
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.09e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.231166e6

QD
type: SiteQuality
SIO_000300: 1.315e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.995e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.927e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5781
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7113
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18495
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3845
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.089e0

DP
type: SiteQuality
SIO_000300: 2.231052e6

QD
type: SiteQuality
SIO_000300: 1.366e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.244e0

VQSLOD
type: SiteQuality
SIO_000300: -4.806e-1

FS
type: SiteQuality
SIO_000300: 3.654e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7115
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5779
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18496
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2770
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 2.230886e6

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.299e0

GenotypeDepth
all individuals: 420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5277
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18497
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13278
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 2.229662e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

GenotypeDepth
all individuals: 420
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5276
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18494
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4037
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.733e0

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

DP
type: SiteQuality
SIO_000300: 2.22905e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

FS
type: SiteQuality
SIO_000300: 1.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeDepth
all individuals: 1016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4037
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

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: 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

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

European (Non-Finnish)
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allele count: 10
allele frequency: 1.499385252046661e-4
allele num: 66694
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -2.82e-1

ReadPosRankSum
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MQ
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SIO_000300: 5.962e1

VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: -1.9e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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DP
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SIO_000300: 2.229982e6

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 0.0e0
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num of homozygotes: 0

Latino
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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: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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SIO_000300: 2.226286e6

BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

East Asian
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allele frequency: 9.257116408238834e-4
allele num: 8642
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Other
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Latino
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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FS
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VQSLOD
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SIO_000300: 8.110000000000001e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10302
num of homozygotes: 0

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

Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele num: 66542
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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BaseQRankSum
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SIO_000300: 3.96e0

FS
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SIO_000300: 8.3e-1

VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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SIO_000300: 6.0e1

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

South Asian
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East Asian
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num of homozygotes: 0

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

African
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ReadPosRankSum
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SIO_000300: 1.88e0

QD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
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Other
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African
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European (Finnish)
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East Asian
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Latino
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VQSLOD
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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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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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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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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East Asian
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African
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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MQ
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 6.157e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-1

DP
type: SiteQuality
SIO_000300: 2.220865e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.147e1