2-220034579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034579
    reference: chr 2
allele count: 9
allele frequency: 7.454280413464087e-5
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.128T>C
  hgvsp: ENSP00000393192.1:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.128T>C
  hgvsp: ENSP00000386473.3:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.971T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+138T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.128T>C
  hgvsp: ENSP00000295738.7:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.128T>C
  hgvsp: ENSP00000406546.2:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.128T>C
  hgvsp: ENSP00000388907.1:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.201T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.128T>C
  hgvsp: ENSP00000320919.3:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.128T>C
  hgvsp: ENSP00000386989.2:p.Leu43Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-47T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.173T>C
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Leu43Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-220034579-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034579
    reference: chr 2
allele count: 4
allele frequency: 3.31301351709515e-5
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.128T>A
  hgvsp: ENSP00000386989.2:p.Leu43Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-47T>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+138T>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.128T>A
  hgvsp: ENSP00000386473.3:p.Leu43Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.128T>A
  hgvsp: ENSP00000388907.1:p.Leu43Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.128T>A
  hgvsp: ENSP00000295738.7:p.Leu43Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.173T>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.201T>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.128T>A
  hgvsp: ENSP00000393192.1:p.Leu43Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.128T>A
  hgvsp: ENSP00000320919.3:p.Leu43Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.128T>A
  hgvsp: ENSP00000406546.2:p.Leu43Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.971T>A
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu43Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-220034595-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034595
    reference: chr 2
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.112C>G
  hgvsp: ENSP00000320919.3:p.Pro38Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.112C>G
  hgvsp: ENSP00000388907.1:p.Pro38Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.112C>G
  hgvsp: ENSP00000393192.1:p.Pro38Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.112C>G
  hgvsp: ENSP00000406546.2:p.Pro38Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.112C>G
  hgvsp: ENSP00000386473.3:p.Pro38Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.112C>G
  hgvsp: ENSP00000386989.2:p.Pro38Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.112C>G
  hgvsp: ENSP00000295738.7:p.Pro38Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.955C>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-63C>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.185C>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+122C>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.157C>G
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro38Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-220034599-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034599
    reference: chr 2
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-67G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.108G>T
  hgvsp: ENSP00000386473.3:p.Trp36Cys
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.181G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.153G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.108G>T
  hgvsp: ENSP00000295738.7:p.Trp36Cys
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+118G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.108G>T
  hgvsp: ENSP00000386989.2:p.Trp36Cys
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.108G>T
  hgvsp: ENSP00000406546.2:p.Trp36Cys
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.951G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.108G>T
  hgvsp: ENSP00000388907.1:p.Trp36Cys
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.108G>T
  hgvsp: ENSP00000393192.1:p.Trp36Cys
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.108G>T
  hgvsp: ENSP00000320919.3:p.Trp36Cys
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp36Cys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-220034609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034609
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034609
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-77C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.98C>T
  hgvsp: ENSP00000386473.3:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.98C>T
  hgvsp: ENSP00000295738.7:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.98C>T
  hgvsp: ENSP00000393192.1:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.143C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.98C>T
  hgvsp: ENSP00000406546.2:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.98C>T
  hgvsp: ENSP00000320919.3:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+108C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.98C>T
  hgvsp: ENSP00000386989.2:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.98C>T
  hgvsp: ENSP00000388907.1:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.941C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.171C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr33Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-220034611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034611
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034611
    reference: chr 2
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.96C>T
  hgvsp: ENST00000318673.3:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.96C>T
  hgvsp: ENST00000409878.3:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.96C>T
  hgvsp: ENST00000295738.7:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.141C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.96C>T
  hgvsp: ENST00000421779.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.96C>T
  hgvsp: ENST00000455516.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.96C>T
  hgvsp: ENST00000430764.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+106C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-79C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.96C>T
  hgvsp: ENST00000409370.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.169C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.939C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser32Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-220034615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034615
    reference: chr 2
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.92C>T
  hgvsp: ENSP00000406546.2:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.92C>T
  hgvsp: ENSP00000320919.3:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.165C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+102C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-83C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.92C>T
  hgvsp: ENSP00000388907.1:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.935C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.92C>T
  hgvsp: ENSP00000386989.2:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.92C>T
  hgvsp: ENSP00000386473.3:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.92C>T
  hgvsp: ENSP00000295738.7:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.92C>T
  hgvsp: ENSP00000393192.1:p.Pro31Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.137C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro31Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-220034636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034636
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034636
    reference: chr 2
allele count: 2
allele frequency: 1.659695943703114e-5
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.71C>T
  hgvsp: ENSP00000295738.7:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.71C>T
  hgvsp: ENSP00000386989.2:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-104C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.71C>T
  hgvsp: ENSP00000386473.3:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.71C>T
  hgvsp: ENSP00000388907.1:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.71C>T
  hgvsp: ENSP00000320919.3:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+81C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.914C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.71C>T
  hgvsp: ENSP00000406546.2:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.71C>T
  hgvsp: ENSP00000393192.1:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.144C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.116C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro24Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-220034638-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034638
    reference: chr 2
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.142G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.69G>T
  hgvsp: ENSP00000320919.3:p.Leu23Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.69G>T
  hgvsp: ENSP00000406546.2:p.Leu23Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.69G>T
  hgvsp: ENSP00000386989.2:p.Leu23Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.69G>T
  hgvsp: ENSP00000295738.7:p.Leu23Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.69G>T
  hgvsp: ENSP00000388907.1:p.Leu23Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.69G>T
  hgvsp: ENSP00000393192.1:p.Leu23Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-106G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.69G>T
  hgvsp: ENSP00000386473.3:p.Leu23Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+79G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.912G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.114G>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu23Phe
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

2-220034644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034644
    reference: chr 2
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.63C>T
  hgvsp: ENST00000421779.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.63C>T
  hgvsp: ENST00000430764.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.63C>T
  hgvsp: ENST00000409878.3:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+73C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.906C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.63C>T
  hgvsp: ENST00000455516.2:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.63C>T
  hgvsp: ENST00000409370.2:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.63C>T
  hgvsp: ENST00000295738.7:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-112C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.108C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.63C>T
  hgvsp: ENST00000318673.3:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.136C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala21Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-220034655-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034655
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034655
    reference: chr 2
allele count: 9
allele frequency: 7.477194556602363e-5
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.125G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.97G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.895G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.52G>T
  hgvsp: ENSP00000386989.2:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-123G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.52G>T
  hgvsp: ENSP00000295738.7:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.52G>T
  hgvsp: ENSP00000320919.3:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.52G>T
  hgvsp: ENSP00000406546.2:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.52G>T
  hgvsp: ENSP00000388907.1:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.52G>T
  hgvsp: ENSP00000393192.1:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+62G>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.52G>T
  hgvsp: ENSP00000386473.3:p.Asp18Tyr
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp18Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-220034662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034662
    reference: chr 2
allele count: 2
allele frequency: 1.663616702711695e-5
allele num: 120220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.45C>T
  hgvsp: ENST00000318673.3:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.45C>T
  hgvsp: ENST00000430764.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.118C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.888C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.45C>T
  hgvsp: ENST00000295738.7:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.45C>T
  hgvsp: ENST00000409878.3:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.45C>T
  hgvsp: ENST00000455516.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.90C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.45C>T
  hgvsp: ENST00000421779.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-130C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+55C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.45C>T
  hgvsp: ENST00000409370.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly15Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

2-220034662-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034662
    reference: chr 2
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.118C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.45C>A
  hgvsp: ENST00000295738.7:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.45C>A
  hgvsp: ENST00000409370.2:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.45C>A
  hgvsp: ENST00000318673.3:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.45C>A
  hgvsp: ENST00000430764.1:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.45C>A
  hgvsp: ENST00000409878.3:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-130C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.888C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.45C>A
  hgvsp: ENST00000421779.1:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.45C>A
  hgvsp: ENST00000455516.2:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.90C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+55C>A
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly15Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-220034666-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034666
    reference: chr 2
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.41T>C
  hgvsp: ENSP00000406546.2:p.Val14Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.41T>C
  hgvsp: ENSP00000393192.1:p.Val14Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+51T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.41T>C
  hgvsp: ENSP00000295738.7:p.Val14Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.41T>C
  hgvsp: ENSP00000388907.1:p.Val14Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.884T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.41T>C
  hgvsp: ENSP00000386989.2:p.Val14Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.114T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.86T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.41T>C
  hgvsp: ENSP00000386473.3:p.Val14Ala
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-134T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.41T>C
  hgvsp: ENSP00000320919.3:p.Val14Ala
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val14Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

2-220034670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034670
    reference: chr 2
allele count: 1
allele frequency: 8.3365290027844e-6
allele num: 119954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+47T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.37T>C
  hgvsp: ENSP00000386473.3:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.37T>C
  hgvsp: ENSP00000388907.1:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.37T>C
  hgvsp: ENSP00000393192.1:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.82T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.110T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.37T>C
  hgvsp: ENSP00000295738.7:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.37T>C
  hgvsp: ENSP00000320919.3:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.37T>C
  hgvsp: ENSP00000386989.2:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.880T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-138T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.37T>C
  hgvsp: ENSP00000406546.2:p.Ser13Pro
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser13Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-220034672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034672
    reference: chr 2
allele count: 2
allele frequency: 1.668502018887443e-5
allele num: 119868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.35G>A
  hgvsp: ENSP00000295738.7:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.35G>A
  hgvsp: ENSP00000388907.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.35G>A
  hgvsp: ENSP00000386473.3:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.35G>A
  hgvsp: ENSP00000406546.2:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.35G>A
  hgvsp: ENSP00000386989.2:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.80G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-140G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.108G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.35G>A
  hgvsp: ENSP00000320919.3:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.35G>A
  hgvsp: ENSP00000393192.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.878G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+45G>A
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg12Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-220034673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034673
    reference: chr 2
allele count: 4
allele frequency: 3.339344152808389e-5
allele num: 119784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.34C>T
  hgvsp: ENSP00000386473.3:p.Arg12Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.34C>T
  hgvsp: ENSP00000295738.7:p.Arg12Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.34C>T
  hgvsp: ENSP00000393192.1:p.Arg12Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-141C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.34C>T
  hgvsp: ENSP00000388907.1:p.Arg12Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.877C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.79C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.34C>T
  hgvsp: ENSP00000320919.3:p.Arg12Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+44C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.34C>T
  hgvsp: ENSP00000386989.2:p.Arg12Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.34C>T
  hgvsp: ENSP00000406546.2:p.Arg12Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.107C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg12Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-220034676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034676
    reference: chr 2
allele count: 1
allele frequency: 8.351707088928977e-6
allele num: 119736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.31C>T
  hgvsp: ENSP00000320919.3:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.31C>T
  hgvsp: ENSP00000386473.3:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-144C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.874C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.31C>T
  hgvsp: ENSP00000393192.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.76C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.31C>T
  hgvsp: ENSP00000295738.7:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.31C>T
  hgvsp: ENSP00000388907.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.31C>T
  hgvsp: ENSP00000386989.2:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+41C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.31C>T
  hgvsp: ENSP00000406546.2:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.104C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu11Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-220034678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034678
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034678
    reference: chr 2
allele count: 1
allele frequency: 8.35952651641811e-6
allele num: 119624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.29A>G
  hgvsp: ENSP00000386473.3:p.Gln10Arg
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.872A>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.29A>G
  hgvsp: ENSP00000393192.1:p.Gln10Arg
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-146A>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.102A>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.29A>G
  hgvsp: ENSP00000388907.1:p.Gln10Arg
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.29A>G
  hgvsp: ENSP00000295738.7:p.Gln10Arg
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.74A>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.29A>G
  hgvsp: ENSP00000406546.2:p.Gln10Arg
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.29A>G
  hgvsp: ENSP00000386989.2:p.Gln10Arg
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+39A>G
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.29A>G
  hgvsp: ENSP00000320919.3:p.Gln10Arg
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln10Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-220034679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034679
    reference: chr 2
allele count: 4
allele frequency: 3.344146072300438e-5
allele num: 119612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.28C>T
  hgvsp: ENSP00000393192.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+38C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.28C>T
  hgvsp: ENSP00000320919.3:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.871C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.28C>T
  hgvsp: ENSP00000406546.2:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.28C>T
  hgvsp: ENSP00000388907.1:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.101C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.28C>T
  hgvsp: ENSP00000295738.7:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-147C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.28C>T
  hgvsp: ENSP00000386473.3:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.73C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.28C>T
  hgvsp: ENSP00000386989.2:p.Gln10Ter
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln10Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-220034692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034692
    reference: chr 2
allele count: 1
allele frequency: 8.432698632216282e-6
allele num: 118586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-160C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.15C>T
  hgvsp: ENST00000318673.3:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.60C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.15C>T
  hgvsp: ENST00000421779.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.858C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.15C>T
  hgvsp: ENST00000409878.3:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.15C>T
  hgvsp: ENST00000295738.7:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.15C>T
  hgvsp: ENST00000455516.2:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.15C>T
  hgvsp: ENST00000409370.2:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.88C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.15C>T
  hgvsp: ENST00000430764.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+25C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-220034693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034693
    reference: chr 2
allele count: 1
allele frequency: 8.435970980259829e-6
allele num: 118540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.857C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.14C>T
  hgvsp: ENSP00000386989.2:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.87C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.14C>T
  hgvsp: ENSP00000295738.7:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.14C>T
  hgvsp: ENSP00000388907.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+24C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.14C>T
  hgvsp: ENSP00000393192.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.59C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.14C>T
  hgvsp: ENSP00000320919.3:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.14C>T
  hgvsp: ENSP00000386473.3:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-161C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.14C>T
  hgvsp: ENSP00000406546.2:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

2-220034694-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034694
    reference: chr 2
allele count: 1
allele frequency: 8.444947387977773e-6
allele num: 118414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.856C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.13C>A
  hgvsp: ENSP00000320919.3:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+23C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.13C>A
  hgvsp: ENSP00000406546.2:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.13C>A
  hgvsp: ENSP00000295738.7:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.86C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.58C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-162C>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.13C>A
  hgvsp: ENSP00000393192.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.13C>A
  hgvsp: ENSP00000386989.2:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.13C>A
  hgvsp: ENSP00000388907.1:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.13C>A
  hgvsp: ENSP00000386473.3:p.Pro5Thr
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

2-220034699-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034699
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034699
    reference: chr 2
allele count: 1
allele frequency: 8.498920637079091e-6
allele num: 117662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.8G>C
  hgvsp: ENSP00000386473.3:p.Arg3Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.8G>C
  hgvsp: ENSP00000406546.2:p.Arg3Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.851G>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.8G>C
  hgvsp: ENSP00000386989.2:p.Arg3Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.53G>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.8G>C
  hgvsp: ENSP00000320919.3:p.Arg3Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.8G>C
  hgvsp: ENSP00000393192.1:p.Arg3Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.8G>C
  hgvsp: ENSP00000295738.7:p.Arg3Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.8G>C
  hgvsp: ENSP00000388907.1:p.Arg3Pro
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+18G>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-167G>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.81G>C
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg3Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

2-220034699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034699
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034699
    reference: chr 2
allele count: 1
allele frequency: 8.498920637079091e-6
allele num: 117662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.851G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000320919
  ensembl transcript: ENST00000318673
  gene symbol: SLC23A3
  hgvsc: ENST00000318673.3:c.8G>A
  hgvsp: ENSP00000320919.3:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.8G>A
  hgvsp: ENSP00000406546.2:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.8G>A
  hgvsp: ENSP00000393192.1:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.8G>A
  hgvsp: ENSP00000386473.3:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.53G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.81G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386989
  ensembl transcript: ENST00000409370
  gene symbol: SLC23A3
  hgvsc: ENST00000409370.2:c.8G>A
  hgvsp: ENSP00000386989.2:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.8G>A
  hgvsp: ENSP00000388907.1:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.8G>A
  hgvsp: ENSP00000295738.7:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.39+18G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-167G>A
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26269
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg3Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

2-220034721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034721
    reference: chr 2
allele count: 3
allele frequency: 2.632133080648558e-5
allele num: 113976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.35G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.829G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.-15G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.31G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.-15G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-189G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.-15G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.59G>A
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-220034722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034722
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034722
    reference: chr 2
allele count: 3
allele frequency: 2.64219407796234e-5
allele num: 113542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.828C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.-16C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.34C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000388907
  ensembl transcript: ENST00000430764
  gene symbol: SLC23A3
  hgvsc: ENST00000430764.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.-16C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.30C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.-16C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.58C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-190C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20365
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-220034737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034737
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034737
    reference: chr 2
allele count: 2
allele frequency: 1.8067500180675e-5
allele num: 110696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.813G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-205G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.15G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.-31G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.43G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.-31G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.-31G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.19G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.-31G>A
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-220034739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034739
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034739
    reference: chr 2
allele count: 2
allele frequency: 1.821626348003498e-5
allele num: 109792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.-33G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.-33G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.13G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.17G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-207G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000386473
  ensembl transcript: ENST00000409878
  gene symbol: SLC23A3
  hgvsc: ENST00000409878.3:c.-33G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.41G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.811G>A
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11874
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-220034740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034740
    reference: chr 2
allele count: 13
allele frequency: 1.188082617437397e-4
allele num: 109420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-208C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.-34C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.-34C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.810C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.16C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.-34C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.12C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.40C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12009
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.75e1
  variant carriers: 13
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

2-220034742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034742
    reference: chr 2
allele count: 1
allele frequency: 9.142606374225164e-6
allele num: 109378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.14C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.-36C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-210C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.-36C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.808C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.10C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.38C>T
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

2-220034746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220034746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220034746
    reference: chr 2
allele count: 2
allele frequency: 1.87913409500902e-5
allele num: 106432
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000406546
  ensembl transcript: ENST00000455516
  gene symbol: SLC23A3
  hgvsc: ENST00000455516.2:c.-40T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000379996
  ensembl transcript: ENST00000396775
  gene symbol: SLC23A3
  hgvsc: ENST00000396775.3:c.-214T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000465580
  gene symbol: SLC23A3
  hgvsc: ENST00000465580.1:n.10T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000461812
  gene symbol: SLC23A3
  hgvsc: ENST00000461812.1:n.6T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000497918
  gene symbol: SLC23A3
  hgvsc: ENST00000497918.1:n.34T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000295738
  ensembl transcript: ENST00000295738
  gene symbol: SLC23A3
  hgvsc: ENST00000295738.7:c.-40T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000213901
  ensembl transcript: ENST00000498327
  gene symbol: SLC23A3
  hgvsc: ENST00000498327.1:n.804T>C
  variant of: http://identifiers.org/hgnc/20601
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000213901
  ensembl protein: ENSP00000393192
  ensembl transcript: ENST00000421779
  gene symbol: SLC23A3
  hgvsc: ENST00000421779.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/20601
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

2-220037263-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037263
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037263
    reference: chr 2
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*45G>C
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*45G>C
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-220037274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037274
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037274
    reference: chr 2
allele count: 12
allele frequency: 9.936900680677696e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*34G>A
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50846
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66230
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-220037279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037279
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037279
    reference: chr 2
allele count: 1
allele frequency: 8.278556881964336e-6
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*29G>A
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66244
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-220037283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037283
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037283
    reference: chr 2
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*25G>A
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16490
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-220037289-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037289
    reference: chr 2
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*19C>G
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*19C>G
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-220037299-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037299
    reference: chr 2
allele count: 7
allele frequency: 5.789238632416428e-5
allele num: 120914
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*9G>C
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*9G>C
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 7
  allele frequency: 1.055647715276731e-4
  allele num: 66310
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-220037299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037299
    reference: chr 2
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*9G>A
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50888
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66310
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-220037302-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037302
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037302
    reference: chr 2
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*6G>T
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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genotype depth: GenotypeDepth
  all individuals: 2011
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.507977199384745e-5
  allele num: 66314
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
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site quality: MQ

2-220037307-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037307
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037307
    reference: chr 2
allele count: 13
allele frequency: 1.074664374049335e-4
allele num: 120968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*1G>C
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*1G>C
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4204
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-220037307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037307
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037307
    reference: chr 2
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.*1G>A
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-220037308-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037308
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037308
    reference: chr 2
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1233G>C
  hgvsp: ENSP00000353698.5:p.Ter411TyrextTer4
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1233G>C
  hgvsp: ENSP00000386277.1:p.Ter411TyrextTer4
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ter411TyrextTer4
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-220037322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037322
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037322
    reference: chr 2
allele count: 6
allele frequency: 4.956547599378779e-5
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1219G>A
  hgvsp: ENSP00000353698.5:p.Val407Ile
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1219G>A
  hgvsp: ENSP00000386277.1:p.Val407Ile
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50897
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val407Ile
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-220037322-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037322
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037321
    reference: chr 2
allele count: 4
allele frequency: 3.30436506625252e-5
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1218delC
  hgvsp: ENSP00000386277.1:p.Phe406LeufsTer7
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1218delC
  hgvsp: ENSP00000353698.5:p.Phe406LeufsTer7
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50897
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe406LeufsTer7
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66432
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: CG
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

2-220037323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037323
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037323
    reference: chr 2
allele count: 2
allele frequency: 1.65218253312626e-5
allele num: 121052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1218C>T
  hgvsp: ENST00000360507.5:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1218C>T
  hgvsp: ENST00000409789.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
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genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 50893
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 170
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genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe406Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.505117399157134e-5
  allele num: 66440
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-220037324-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037324
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037324
    reference: chr 2
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1217T>C
  hgvsp: ENSP00000353698.5:p.Phe406Ser
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1217T>C
  hgvsp: ENSP00000386277.1:p.Phe406Ser
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50893
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe406Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-220037336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037336
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037336
    reference: chr 2
allele count: 9
allele frequency: 7.429911171284218e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1205G>A
  hgvsp: ENSP00000386277.1:p.Arg402His
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1205G>A
  hgvsp: ENSP00000353698.5:p.Arg402His
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12342
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50901
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg402His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.503714174009804e-5
  allele num: 66502
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-220037337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037337
    reference: chr 2
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1204C>T
  hgvsp: ENSP00000353698.5:p.Arg402Cys
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1204C>T
  hgvsp: ENSP00000386277.1:p.Arg402Cys
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12336
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 50901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg402Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-220037337-G-GGCTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037342
    reference: chr 2
allele count: 16
allele frequency: 1.320633243640325e-4
allele num: 121154
alternate allele: GGCTCA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1203_1204insTGAGC
  hgvsp: ENSP00000386277.1:p.Arg402Ter
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1203_1204insTGAGC
  hgvsp: ENSP00000353698.5:p.Arg402Ter
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12336
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1284
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 676
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 50901
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1203
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genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg402Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-220037354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037354
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037354
    reference: chr 2
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1187G>A
  hgvsp: ENSP00000386277.1:p.Ser396Asn
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1187G>A
  hgvsp: ENSP00000353698.5:p.Ser396Asn
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 4160
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
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genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 676
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1204
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50901
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser396Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-220037367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037367
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037367
    reference: chr 2
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1174T>C
  hgvsp: ENSP00000386277.1:p.Cys392Arg
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1174T>C
  hgvsp: ENSP00000353698.5:p.Cys392Arg
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50896
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys392Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.211240310077519e-4
  allele num: 16512
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

2-220037368-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037368
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037368
    reference: chr 2
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1173A>G
  hgvsp: ENST00000360507.5:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1173A>G
  hgvsp: ENST00000409789.1:c.1173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln391Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-220037376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037376
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037376
    reference: chr 2
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1165C>T
  hgvsp: ENSP00000353698.5:p.Pro389Ser
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1165C>T
  hgvsp: ENSP00000386277.1:p.Pro389Ser
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 813
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genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro389Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

2-220037377-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037377
    reference: chr 2
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1164G>C
  hgvsp: ENSP00000353698.5:p.Gln388His
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1164G>C
  hgvsp: ENSP00000386277.1:p.Gln388His
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50896
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1172
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genotype quality: GenotypeQuality
  all individuals: 678
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genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln388His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10386
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-220037383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037383
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1158T>C
  hgvsp: ENST00000409789.1:c.1158T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1158T>C
  hgvsp: ENST00000360507.5:c.1158T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50891
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu386Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499655079331754e-5
  allele num: 66682
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum

2-220037392-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037392
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037392
    reference: chr 2
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1149C>G
  hgvsp: ENST00000360507.5:c.1149C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1149C>G
  hgvsp: ENST00000409789.1:c.1149C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu383Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS

2-220037393-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037393
    reference: chr 2
allele count: 121267
allele frequency: 9.989538197934e-1
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1148T>C
  hgvsp: ENSP00000386277.1:p.Leu383Pro
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1148T>C
  hgvsp: ENSP00000353698.5:p.Leu383Pro
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 377
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 7.25e1
  variant carriers: 5347
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.75e1
  variant carriers: 3213
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 9.25e1
  variant carriers: 2962
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.25e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 1209
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 7.75e1
  variant carriers: 4688
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 6.75e1
  variant carriers: 5626
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 5.75e1
  variant carriers: 5188
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.25e1
  variant carriers: 2066
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 8.25e1
  variant carriers: 3802
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 5.25e1
  variant carriers: 4272
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 9.75e1
  variant carriers: 11974
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 6.25e1
  variant carriers: 5579
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 8.75e1
  variant carriers: 3387
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.75e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 59731
  bin: 9.75e1
  variant carriers: 59731
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 6.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 211
hgvs: p.Leu383Pro
num of homozygotes: 60570
population: Other
  type: Population
  allele count: 904
  allele frequency: 1.0e0
  allele num: 904
  num of homozygotes: 452
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

2-220037395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037395
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037395
    reference: chr 2
allele count: 10
allele frequency: 8.254775387561705e-5
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1146G>A
  hgvsp: ENST00000409789.1:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1146G>A
  hgvsp: ENST00000360507.5:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12460
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val382Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 9
  allele frequency: 8.662175168431184e-4
  allele num: 10390
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-220037397-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037397
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037397
    reference: chr 2
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1144G>T
  hgvsp: ENSP00000386277.1:p.Val382Leu
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1144G>T
  hgvsp: ENSP00000353698.5:p.Val382Leu
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val382Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66538
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-220037398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037398
    reference: chr 2
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1143G>A
  hgvsp: ENST00000409789.1:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1143G>A
  hgvsp: ENST00000360507.5:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 23503
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro381Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8636
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-220037399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037399
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037399
    reference: chr 2
allele count: 5
allele frequency: 4.129160128829796e-5
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1142C>T
  hgvsp: ENSP00000353698.5:p.Pro381Leu
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1142C>T
  hgvsp: ENSP00000386277.1:p.Pro381Leu
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19409
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro381Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-220037401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037401
    reference: chr 2
allele count: 2
allele frequency: 1.65188231990353e-5
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1140C>T
  hgvsp: ENST00000409789.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1140C>T
  hgvsp: ENST00000360507.5:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 13278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser380Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11564
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/2-220037411-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037411
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037410
    reference: chr 2
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1129delT
  hgvsp: ENSP00000386277.1:p.Trp377GlyfsTer36
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1129delT
  hgvsp: ENSP00000353698.5:p.Trp377GlyfsTer36
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2303
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp377GlyfsTer36
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: CA
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-220037412-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037413
    reference: chr 2
allele count: 9
allele frequency: 7.452058424138045e-5
allele num: 120772
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1128dupC
  hgvsp: ENSP00000353698.5:p.Trp377LeufsTer50
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1128dupC
  hgvsp: ENSP00000386277.1:p.Trp377LeufsTer50
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19009
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12391
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp377LeufsTer50
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-220037414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037414
    reference: chr 2
allele count: 7
allele frequency: 5.799983428618775e-5
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1127C>G
  hgvsp: ENSP00000386277.1:p.Pro376Arg
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1127C>G
  hgvsp: ENSP00000353698.5:p.Pro376Arg
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18844
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12372
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro376Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-220037414-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037414
    reference: chr 2
allele count: 4
allele frequency: 3.314276244925015e-5
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1127C>A
  hgvsp: ENSP00000386277.1:p.Pro376His
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1127C>A
  hgvsp: ENSP00000353698.5:p.Pro376His
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 8728
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 12372
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
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genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro376His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16416
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-220037417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037417
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037417
    reference: chr 2
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1124C>T
  hgvsp: ENSP00000353698.5:p.Pro375Leu
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1124C>T
  hgvsp: ENSP00000386277.1:p.Pro375Leu
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18863
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro375Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-220037420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037420
    reference: chr 2
allele count: 13
allele frequency: 1.078086644994361e-4
allele num: 120584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1121C>T
  hgvsp: ENSP00000353698.5:p.Ala374Val
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1121C>T
  hgvsp: ENSP00000386277.1:p.Ala374Val
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12346
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22399
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala374Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 13
  allele frequency: 1.513035381750465e-3
  allele num: 8592
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-220037425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037425
    reference: chr 2
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1116C>T
  hgvsp: ENST00000409789.1:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1116C>T
  hgvsp: ENST00000360507.5:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly372Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6602
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-220037427-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037427
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037427
    reference: chr 2
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1114G>C
  hgvsp: ENSP00000386277.1:p.Gly372Arg
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1114G>C
  hgvsp: ENSP00000353698.5:p.Gly372Arg
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly372Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11526
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-220037432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037432
    reference: chr 2
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1109C>T
  hgvsp: ENSP00000386277.1:p.Thr370Ile
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1109C>T
  hgvsp: ENSP00000353698.5:p.Thr370Ile
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr370Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10348
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-220037432-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220037432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220037432
    reference: chr 2
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000353698
  ensembl transcript: ENST00000360507
  gene symbol: CNPPD1
  hgvsc: ENST00000360507.5:c.1109C>G
  hgvsp: ENSP00000353698.5:p.Thr370Ser
  variant of: http://identifiers.org/hgnc/25220
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115649
  ensembl protein: ENSP00000386277
  ensembl transcript: ENST00000409789
  gene symbol: CNPPD1
  hgvsc: ENST00000409789.1:c.1109C>G
  hgvsp: ENSP00000386277.1:p.Thr370Ser
  variant of: http://identifiers.org/hgnc/25220
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Thr370Ser
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 76
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9720
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 851
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049223574554829e-4
allele num: 66716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

FS
type: SiteQuality
SIO_000300: 1.627e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

DP
type: SiteQuality
SIO_000300: 1.849193e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeDepth
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2070
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 851
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995563283170454e-5
allele num: 66716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

QD
type: SiteQuality
SIO_000300: 1.371e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

FS
type: SiteQuality
SIO_000300: 1.627e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

DP
type: SiteQuality
SIO_000300: 1.849193e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

GenotypeDepth
all individuals: 682
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36894
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3807
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1935
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9718
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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: 66710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

FS
type: SiteQuality
SIO_000300: 1.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 9.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

VQSLOD
type: SiteQuality
SIO_000300: -5.247000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

DP
type: SiteQuality
SIO_000300: 1.847675e6

GenotypeDepth
all individuals: 295
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3807
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
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: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.038e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.847529e6

QD
type: SiteQuality
SIO_000300: 1.529e1

GenotypeDepth
all individuals: 76
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1932
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9714
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 2.279e0

DP
type: SiteQuality
SIO_000300: 1.846564e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.668e0

GenotypeDepth
all individuals: 4156
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9720
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3797
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 853
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3222
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
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: 896
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.337e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.569e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.613e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 9.83e-1

MQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Other
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Latino
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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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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European (Finnish)
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South Asian
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allele num: 16486
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Latino
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allele frequency: 0.0e0
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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SIO_000300: 1.489e1

MQ
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SIO_000300: 5.951e1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

East Asian
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South Asian
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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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Latino
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European (Non-Finnish)
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num of homozygotes: 0

Other
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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MQRankSum
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QD
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MQ
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GenotypeDepth
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

South Asian
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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allele num: 11550
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Other
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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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Other
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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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African
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Latino
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allele frequency: 1.734003814808393e-4
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South Asian
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East Asian
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European (Finnish)
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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GenotypeDepth
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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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African
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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European (Finnish)
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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DP
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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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Latino
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Other
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.825462e6

QD
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FS
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.85e0

VQSLOD
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SIO_000300: 8.0e-1

ClippingRankSum
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SIO_000300: -8.74e-1

GenotypeDepth
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variant carriers: 0

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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507567991316408e-5
allele num: 66332
num of homozygotes: 0

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

European (Finnish)
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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 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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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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MQ
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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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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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European (Non-Finnish)
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allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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DP
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SIO_000300: 1.817427e6

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

South Asian
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allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

African
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allele frequency: 1.029230135858378e-4
allele num: 9716
num of homozygotes: 0

Other
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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

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

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

DP
type: SiteQuality
SIO_000300: 1.815817e6

FS
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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SIO_000300: 9.14e-1

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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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African
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South Asian
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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GenotypeDepth
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

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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South Asian
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African
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Other
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Latino
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allele frequency: 8.733624454148471e-5
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European (Finnish)
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East Asian
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European (Non-Finnish)
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QD
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MQ
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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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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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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Other
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African
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East Asian
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South Asian
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VQSLOD
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SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.9e-3

DP
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ReadPosRankSum
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QD
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SIO_000300: 1.354e1

FS
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SIO_000300: 3.008e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

GenotypeDepth
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variant carriers: 0

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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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

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: 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
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num of homozygotes: 0

African
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allele num: 9630
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East Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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SIO_000300: -9.409999999999999e-1

MQ
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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SIO_000300: 1.73e0

DP
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SIO_000300: 1.780458e6

GenotypeDepth
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variant carriers: 0

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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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
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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

African
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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: 0
allele frequency: 0.0e0
allele num: 65536
num of homozygotes: 0

Other
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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 frequency: 6.152331733727083e-5
allele num: 16254
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -4.1e-1

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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QD
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MQ
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DP
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SIO_000300: 1.778306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
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SIO_000300: 2.32e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65494
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
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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

Latino
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allele count: 1
allele frequency: 8.892050506846879e-5
allele num: 11246
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.295e0

BaseQRankSum
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SIO_000300: -2.243e0

ClippingRankSum
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SIO_000300: 1.47e0

MQ
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DP
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
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SIO_000300: -1.562e0

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
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SIO_000300: -2.845e0

GenotypeDepth
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variant carriers: 0

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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Other
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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 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

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

East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.534354190321294e-5
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BaseQRankSum
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SIO_000300: 1.77e0

InbreedingCoeff
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SIO_000300: 6.6e-3

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65174
num of homozygotes: 0

European (Finnish)
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allele count: 0
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Latino
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East Asian
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South Asian
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African
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Other
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6184
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.932491625869621e-4
allele num: 15524
num of homozygotes: 0

European (Finnish)
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 frequency: 0.0e0
allele num: 63428
num of homozygotes: 0

East Asian
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allele count: 0
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Latino
type: Population
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African
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Other
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 1.586925e6

GenotypeQuality
all individuals: 2592
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 17620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.218435196807312e-5
allele num: 62142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.431351e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.969e0

FS
type: SiteQuality
SIO_000300: 4.104e0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

GenotypeQuality
all individuals: 468
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 492
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
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variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5372
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.239705834710208e-5
allele num: 61734
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

FS
type: SiteQuality
SIO_000300: 9.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.866e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

DP
type: SiteQuality
SIO_000300: 1.409564e6

GenotypeQuality
all individuals: 4093
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15781
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.5e0
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GenotypeQuality
all individuals: 5252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 5.75e1
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GenotypeQuality
all individuals: 1299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.045205121505095e-3
allele num: 7654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14836
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.119519324455992e-5
allele num: 61580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 1.397754e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

FS
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
all individuals: 225
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5930
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
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GenotypeQuality
all individuals: 824
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variant carriers: 0

GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
all individuals: 3644
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variant carriers: 0

GenotypeQuality
all individuals: 4254
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variant carriers: 0

GenotypeQuality
all individuals: 5146
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GenotypeQuality
all individuals: 3488
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variant carriers: 1

GenotypeQuality
all individuals: 1948
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variant carriers: 0

GenotypeQuality
all individuals: 1287
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variant carriers: 0

GenotypeQuality
all individuals: 14610
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14888
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623640201331385e-5
allele num: 61590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.375932e6

VQSLOD
type: SiteQuality
SIO_000300: -4.99e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.047e1

GenotypeQuality
all individuals: 1501
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
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variant carriers: 0

GenotypeQuality
all individuals: 3481
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variant carriers: 2

GenotypeQuality
all individuals: 3762
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variant carriers: 0

GenotypeQuality
all individuals: 10909
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variant carriers: 0

GenotypeQuality
all individuals: 948
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variant carriers: 0

GenotypeQuality
all individuals: 820
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variant carriers: 0

GenotypeQuality
all individuals: 1247
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GenotypeQuality
all individuals: 621
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variant carriers: 0

GenotypeQuality
all individuals: 4375
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GenotypeQuality
all individuals: 1233
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.912760956726116e-5
allele num: 14466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657220509761029e-5
allele num: 60342
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.24e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 1.314228e6

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.125e0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.1415e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 4.357783e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.397e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

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

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

East Asian
type: Population
allele count: 11
allele frequency: 1.271676300578035e-3
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.561e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 9.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 4.365581e6

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.112e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 4.367655e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.187e0

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

DP
type: SiteQuality
SIO_000300: 4.369413e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.366e0

QD
type: SiteQuality
SIO_000300: 1.156e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.813e0

DP
type: SiteQuality
SIO_000300: 4.371209e6

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.456e0

QD
type: SiteQuality
SIO_000300: 1.415e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
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: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

FS
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

DP
type: SiteQuality
SIO_000300: 4.373574e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

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

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
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: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 4.373574e6

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
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

QD
type: SiteQuality
SIO_000300: 1.18e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.403e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 1.401e0

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

DP
type: SiteQuality
SIO_000300: 4.373545e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.243e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.267441860465116e-4
allele num: 16512
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 4.374581e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

DP
type: SiteQuality
SIO_000300: 4.374581e6

QD
type: SiteQuality
SIO_000300: 1.229e1

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: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.846e0

DP
type: SiteQuality
SIO_000300: 4.374252e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.526493256262042e-5
allele num: 66432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.805e0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.21e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 4.375407e6

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 16512
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.116e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 4.375407e6

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 1.805e0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
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Other
type: Population
allele count: 0
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allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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QD
type: SiteQuality
SIO_000300: 1.006e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 1.167e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 4.374348e6

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: 904
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 66450
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FS
type: SiteQuality
SIO_000300: 2.093e0

DP
type: SiteQuality
SIO_000300: 4.374854e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.667e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.858024691358024e-4
allele num: 10368
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FS
type: SiteQuality
SIO_000300: 1.152e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 4.375241e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.215e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
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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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.858e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 8.02e0

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.374916e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 16
allele frequency: 1.848856020337416e-3
allele num: 8654
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.02e0

MQRankSum
type: SiteQuality
SIO_000300: -8.164e0

MQ
type: SiteQuality
SIO_000300: 5.196e1

FS
type: SiteQuality
SIO_000300: 3.858e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

DP
type: SiteQuality
SIO_000300: 4.374916e6

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
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European (Finnish)
type: Population
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
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

Other
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allele count: 0
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allele num: 904
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South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 4.374616e6

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 6.388e0

VQSLOD
type: SiteQuality
SIO_000300: -9.946e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.602e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.029e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 66650
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: 904
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.453e0

DP
type: SiteQuality
SIO_000300: 4.374802e6

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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Other
type: Population
allele count: 0
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allele num: 904
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.374687e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.018e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8654
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

FS
type: SiteQuality
SIO_000300: 1.165e0

DP
type: SiteQuality
SIO_000300: 4.374467e6

QD
type: SiteQuality
SIO_000300: 1.209e1

European (Finnish)
type: Population
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
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

DP
type: SiteQuality
SIO_000300: 4.374419e6

FS
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.359e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

DP
type: SiteQuality
SIO_000300: 4.373988e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.293e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.64e1

MQRankSum
type: SiteQuality
SIO_000300: -1.288e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.696e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.625e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 4.373565e6

QD
type: SiteQuality
SIO_000300: 1.385e1

FS
type: SiteQuality
SIO_000300: 1.3761e1

Latino
type: Population
allele count: 11577
allele frequency: 9.999136292969425e-1
allele num: 11578
num of homozygotes: 5788

European (Finnish)
type: Population
allele count: 6614
allele frequency: 1.0e0
allele num: 6614
num of homozygotes: 3307

South Asian
type: Population
allele count: 16511
allele frequency: 9.999394379844961e-1
allele num: 16512
num of homozygotes: 8255

East Asian
type: Population
allele count: 8654
allele frequency: 1.0e0
allele num: 8654
num of homozygotes: 4327

European (Non-Finnish)
type: Population
allele count: 66731
allele frequency: 9.999850146856081e-1
allele num: 66732
num of homozygotes: 33365

African
type: Population
allele count: 10276
allele frequency: 9.880769230769231e-1
allele num: 10400
num of homozygotes: 5076

FS
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 4.58728e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 3.097e1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 2.164132e6

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.467e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.273e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.138e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 2.16304e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.856e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 2.162166e6

FS
type: SiteQuality
SIO_000300: 1.992e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511685264835925e-5
allele num: 66494
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.160312e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

QD
type: SiteQuality
SIO_000300: 1.563e1

FS
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.479e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.159e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 4.812e0

VQSLOD
type: SiteQuality
SIO_000300: -1.058e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

DP
type: SiteQuality
SIO_000300: 2.15887e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.116e1

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.792e0

DP
type: SiteQuality
SIO_000300: 2.144672e6

QD
type: SiteQuality
SIO_000300: 1.445e1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.046511627906977e-3
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.943e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

DP
type: SiteQuality
SIO_000300: 2.143775e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.654970760233918e-4
allele num: 16416
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.104e0

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

FS
type: SiteQuality
SIO_000300: 5.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.136834e6

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.488372093023256e-4
allele num: 8600
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 2.136834e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.453e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 5.573e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.81e-1

DP
type: SiteQuality
SIO_000300: 2.133459e6

QD
type: SiteQuality
SIO_000300: 2.943e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

Latino
type: Population
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
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.621e0

DP
type: SiteQuality
SIO_000300: 2.127342e6

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512721991952319e-5
allele num: 66106
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

FS
type: SiteQuality
SIO_000300: 2.681e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.835e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

DP
type: SiteQuality
SIO_000300: 2.117257e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.861e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

MQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.67e-1

DP
type: SiteQuality
SIO_000300: 2.112668e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516162290011523e-5
allele num: 65956
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 2.102574e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2