1-14106890-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106890
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.1997A>G
  hgvsp: ENSP00000341621.4:p.Glu666Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2600A>G
  hgvsp: ENSP00000235372.6:p.Glu867Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30908A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7207A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6120A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2600A>G
  hgvsp: ENSP00000312352.5:p.Glu867Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.1997A>G
  hgvsp: ENSP00000411103.1:p.Glu666Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7207A>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu867Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-14106894-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106894
    reference: chr 1
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30912T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6116T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2001T>C
  hgvsp: ENST00000343137.4:c.2001T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2604T>C
  hgvsp: ENST00000311066.5:c.2604T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2604T>C
  hgvsp: ENST00000235372.7:c.2604T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7211T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2001T>C
  hgvsp: ENST00000413440.1:c.2001T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7211T>C
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11874
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser868Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-14106909-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106909
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106909
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2016T>A
  hgvsp: ENST00000343137.4:c.2016T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6101T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30927T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7226T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2016T>A
  hgvsp: ENST00000413440.1:c.2016T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2619T>A
  hgvsp: ENST00000235372.7:c.2619T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7226T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2619T>A
  hgvsp: ENST00000311066.5:c.2619T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro873Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-14106910-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106910
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106910
    reference: chr 1
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7227A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2620A>G
  hgvsp: ENSP00000235372.6:p.Thr874Ala
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2620A>G
  hgvsp: ENSP00000312352.5:p.Thr874Ala
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6100A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2017A>G
  hgvsp: ENSP00000411103.1:p.Thr673Ala
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2017A>G
  hgvsp: ENSP00000341621.4:p.Thr673Ala
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7227A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30928A>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11875
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7884
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr874Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-14106911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106911
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106911
    reference: chr 1
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6099C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2018C>T
  hgvsp: ENSP00000341621.4:p.Thr673Met
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2621C>T
  hgvsp: ENSP00000312352.5:p.Thr874Met
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7228C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2018C>T
  hgvsp: ENSP00000411103.1:p.Thr673Met
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30929C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2621C>T
  hgvsp: ENSP00000235372.6:p.Thr874Met
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7228C>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28079
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr874Met
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-14106912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106912
    reference: chr 1
allele count: 4
allele frequency: 3.29549012176836e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2019G>A
  hgvsp: ENST00000413440.1:c.2019G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7229G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2622G>A
  hgvsp: ENST00000235372.7:c.2622G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6098G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2019G>A
  hgvsp: ENST00000343137.4:c.2019G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2622G>A
  hgvsp: ENST00000311066.5:c.2622G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30930G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7229G>A
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11874
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr874Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-14106912-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106912
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2622G>C
  hgvsp: ENST00000235372.7:c.2622G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2622G>C
  hgvsp: ENST00000311066.5:c.2622G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2019G>C
  hgvsp: ENST00000343137.4:c.2019G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7229G>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7229G>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2019G>C
  hgvsp: ENST00000413440.1:c.2019G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6098G>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30930G>C
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28076
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr874Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

1-14106912-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106912
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6098G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2019G>T
  hgvsp: ENST00000343137.4:c.2019G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2622G>T
  hgvsp: ENST00000311066.5:c.2622G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2622G>T
  hgvsp: ENST00000235372.7:c.2622G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2019G>T
  hgvsp: ENST00000413440.1:c.2019G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7229G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30930G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7229G>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr874Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-14106919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106919
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7236G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7236G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2629G>A
  hgvsp: ENSP00000235372.6:p.Ala877Thr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2026G>A
  hgvsp: ENSP00000341621.4:p.Ala676Thr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2026G>A
  hgvsp: ENSP00000411103.1:p.Ala676Thr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2629G>A
  hgvsp: ENSP00000312352.5:p.Ala877Thr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30937G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6091G>A
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala877Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-14106919-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106919
    reference: chr 1
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2026G>T
  hgvsp: ENSP00000341621.4:p.Ala676Ser
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6091G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2629G>T
  hgvsp: ENSP00000235372.6:p.Ala877Ser
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30937G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2629G>T
  hgvsp: ENSP00000312352.5:p.Ala877Ser
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7236G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2026G>T
  hgvsp: ENSP00000411103.1:p.Ala676Ser
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7236G>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11868
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala877Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-14106921-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106921
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106921
    reference: chr 1
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6089T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2631T>C
  hgvsp: ENST00000311066.5:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7238T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30939T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2028T>C
  hgvsp: ENST00000343137.4:c.2028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2631T>C
  hgvsp: ENST00000235372.7:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2028T>C
  hgvsp: ENST00000413440.1:c.2028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7238T>C
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7880
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala877Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-14106922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106922
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106922
    reference: chr 1
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7239G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2632G>A
  hgvsp: ENSP00000312352.5:p.Val878Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2029G>A
  hgvsp: ENSP00000341621.4:p.Val677Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6088G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7239G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30940G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2029G>A
  hgvsp: ENSP00000411103.1:p.Val677Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2632G>A
  hgvsp: ENSP00000235372.6:p.Val878Ile
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val878Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-14106938-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106938
    reference: chr 1
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6072C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2648C>G
  hgvsp: ENSP00000235372.6:p.Pro883Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7255C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2045C>G
  hgvsp: ENSP00000341621.4:p.Pro682Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2045C>G
  hgvsp: ENSP00000411103.1:p.Pro682Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30956C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2648C>G
  hgvsp: ENSP00000312352.5:p.Pro883Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7255C>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro883Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-14106942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106942
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106942
    reference: chr 1
allele count: 4
allele frequency: 3.296522169111587e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6068C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30960C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2049C>T
  hgvsp: ENST00000413440.1:c.2049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2652C>T
  hgvsp: ENST00000311066.5:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7259C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2652C>T
  hgvsp: ENST00000235372.7:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7259C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2049C>T
  hgvsp: ENST00000343137.4:c.2049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr884Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-14106944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106944
    reference: chr 1
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7261C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2654C>T
  hgvsp: ENSP00000312352.5:p.Thr885Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2654C>T
  hgvsp: ENSP00000235372.6:p.Thr885Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2051C>T
  hgvsp: ENSP00000411103.1:p.Thr684Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30962C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6066C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7261C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2051C>T
  hgvsp: ENSP00000341621.4:p.Thr684Ile
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11865
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr885Ile
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: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-14106945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106945
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106945
    reference: chr 1
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7262C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2655C>T
  hgvsp: ENST00000235372.7:c.2655C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2655C>T
  hgvsp: ENST00000311066.5:c.2655C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6065C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7262C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2052C>T
  hgvsp: ENST00000413440.1:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2052C>T
  hgvsp: ENST00000343137.4:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30963C>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr885Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-14106946-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106946
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106946
    reference: chr 1
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6064T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2656T>C
  hgvsp: ENSP00000312352.5:p.Cys886Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2053T>C
  hgvsp: ENSP00000341621.4:p.Cys685Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2656T>C
  hgvsp: ENSP00000235372.6:p.Cys886Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7263T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7263T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30964T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2053T>C
  hgvsp: ENSP00000411103.1:p.Cys685Arg
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.25e1
  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: 3352
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys886Arg
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-14106952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106952
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106952
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30970C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6058C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2662C>T
  hgvsp: ENST00000311066.5:c.2662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2059C>T
  hgvsp: ENST00000343137.4:c.2059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7269C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7269C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2059C>T
  hgvsp: ENST00000413440.1:c.2059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2662C>T
  hgvsp: ENST00000235372.7:c.2662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu888Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-14106953-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106953
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2060T>C
  hgvsp: ENSP00000341621.4:p.Leu687Pro
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6057T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2060T>C
  hgvsp: ENSP00000411103.1:p.Leu687Pro
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30971T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2663T>C
  hgvsp: ENSP00000312352.5:p.Leu888Pro
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7270T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7270T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2663T>C
  hgvsp: ENSP00000235372.6:p.Leu888Pro
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu888Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

1-14106972-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106972
    reference: chr 1
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2682T>A
  hgvsp: ENSP00000312352.5:p.Asn894Lys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6038T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7289T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2079T>A
  hgvsp: ENSP00000411103.1:p.Asn693Lys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2682T>A
  hgvsp: ENSP00000235372.6:p.Asn894Lys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7289T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30990T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2079T>A
  hgvsp: ENSP00000341621.4:p.Asn693Lys
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn894Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-14106976-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106976
    reference: chr 1
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2686T>A
  hgvsp: ENSP00000235372.6:p.Tyr896Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2686T>A
  hgvsp: ENSP00000312352.5:p.Tyr896Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30994T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2083T>A
  hgvsp: ENSP00000411103.1:p.Tyr695Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6034T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2083T>A
  hgvsp: ENSP00000341621.4:p.Tyr695Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7293T>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7293T>A
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr896Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-14106977-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106977
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106977
    reference: chr 1
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7294A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2687A>G
  hgvsp: ENSP00000235372.6:p.Tyr896Cys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30995A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7294A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2084A>G
  hgvsp: ENSP00000341621.4:p.Tyr695Cys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2084A>G
  hgvsp: ENSP00000411103.1:p.Tyr695Cys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2687A>G
  hgvsp: ENSP00000312352.5:p.Tyr896Cys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6033A>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr896Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-14106978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106978
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2688T>C
  hgvsp: ENST00000311066.5:c.2688T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2688T>C
  hgvsp: ENST00000235372.7:c.2688T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2085T>C
  hgvsp: ENST00000413440.1:c.2085T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6032T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30996T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7295T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2085T>C
  hgvsp: ENST00000343137.4:c.2085T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7295T>C
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr896Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-14106981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106981
    reference: chr 1
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2088T>C
  hgvsp: ENST00000343137.4:c.2088T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+30999T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6029T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2691T>C
  hgvsp: ENST00000235372.7:c.2691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7298T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7298T>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2088T>C
  hgvsp: ENST00000413440.1:c.2088T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2691T>C
  hgvsp: ENST00000311066.5:c.2691T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn897Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-14106983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106983
    reference: chr 1
allele count: 4
allele frequency: 3.301256127956687e-5
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6027G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2090G>A
  hgvsp: ENSP00000341621.4:p.Gly697Asp
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31001G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2090G>A
  hgvsp: ENSP00000411103.1:p.Gly697Asp
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2693G>A
  hgvsp: ENSP00000312352.5:p.Gly898Asp
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2693G>A
  hgvsp: ENSP00000235372.6:p.Gly898Asp
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7300G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7300G>A
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly898Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-14106984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106984
    reference: chr 1
allele count: 5
allele frequency: 4.127319553589117e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2091C>T
  hgvsp: ENST00000413440.1:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31002C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7301C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2694C>T
  hgvsp: ENST00000311066.5:c.2694C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2694C>T
  hgvsp: ENST00000235372.7:c.2694C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2091C>T
  hgvsp: ENST00000343137.4:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6026C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7301C>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly898Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

1-14106987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106987
    reference: chr 1
allele count: 28
allele frequency: 2.311833283794049e-4
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2697C>T
  hgvsp: ENST00000235372.7:c.2697C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31005C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2697C>T
  hgvsp: ENST00000311066.5:c.2697C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2094C>T
  hgvsp: ENST00000343137.4:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6023C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2094C>T
  hgvsp: ENST00000413440.1:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7304C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7304C>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11871
  bin: 9.75e1
  variant carriers: 28
hgvs: p.Ile899Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-14106988-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106988
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106988
    reference: chr 1
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6022G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2698G>T
  hgvsp: ENSP00000312352.5:p.Asp900Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2698G>T
  hgvsp: ENSP00000235372.6:p.Asp900Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31006G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2095G>T
  hgvsp: ENSP00000411103.1:p.Asp699Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2095G>T
  hgvsp: ENSP00000341621.4:p.Asp699Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7305G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7305G>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp900Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-14106989-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106989
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106989
    reference: chr 1
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2096A>G
  hgvsp: ENSP00000341621.4:p.Asp699Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2699A>G
  hgvsp: ENSP00000235372.6:p.Asp900Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6021A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31007A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2096A>G
  hgvsp: ENSP00000411103.1:p.Asp699Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7306A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7306A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2699A>G
  hgvsp: ENSP00000312352.5:p.Asp900Gly
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp900Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-14106995-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106995
    reference: chr 1
allele count: 3
allele frequency: 2.477373323644051e-5
allele num: 121096
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2705C>G
  hgvsp: ENSP00000235372.6:p.Pro902Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2102C>G
  hgvsp: ENSP00000341621.4:p.Pro701Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7312C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7312C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2102C>G
  hgvsp: ENSP00000411103.1:p.Pro701Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31013C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6015C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2705C>G
  hgvsp: ENSP00000312352.5:p.Pro902Arg
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro902Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-14106997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14106997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14106997
    reference: chr 1
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7314G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7314G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31015G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2707G>A
  hgvsp: ENSP00000312352.5:p.Val903Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6013G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2104G>A
  hgvsp: ENSP00000411103.1:p.Val702Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2104G>A
  hgvsp: ENSP00000341621.4:p.Val702Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2707G>A
  hgvsp: ENSP00000235372.6:p.Val903Ile
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val903Ile
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-14107003-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107003
    reference: chr 1
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6007A>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2713A>C
  hgvsp: ENSP00000312352.5:p.Asn905His
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7320A>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2713A>C
  hgvsp: ENSP00000235372.6:p.Asn905His
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2110A>C
  hgvsp: ENSP00000341621.4:p.Asn704His
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2110A>C
  hgvsp: ENSP00000411103.1:p.Asn704His
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7320A>C
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31021A>C
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn905His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

1-14107005-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107005
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107005
    reference: chr 1
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7322C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2112C>G
  hgvsp: ENSP00000411103.1:p.Asn704Lys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2112C>G
  hgvsp: ENSP00000341621.4:p.Asn704Lys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2715C>G
  hgvsp: ENSP00000312352.5:p.Asn905Lys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7322C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2715C>G
  hgvsp: ENSP00000235372.6:p.Asn905Lys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31023C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6005C>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27038
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn905Lys
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-14107007-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107007
    reference: chr 1
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31025C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7324C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7324C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2717C>G
  hgvsp: ENSP00000312352.5:p.Pro906Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2114C>G
  hgvsp: ENSP00000411103.1:p.Pro705Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2114C>G
  hgvsp: ENSP00000341621.4:p.Pro705Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-6003C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2717C>G
  hgvsp: ENSP00000235372.6:p.Pro906Arg
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro906Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-14107013-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107013
    reference: chr 1
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2723A>G
  hgvsp: ENSP00000235372.6:p.Asp908Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7330A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7330A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2120A>G
  hgvsp: ENSP00000341621.4:p.Asp707Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31031A>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2723A>G
  hgvsp: ENSP00000312352.5:p.Asp908Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2120A>G
  hgvsp: ENSP00000411103.1:p.Asp707Gly
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5997A>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp908Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-14107019-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107019
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107019
    reference: chr 1
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2126C>A
  hgvsp: ENSP00000341621.4:p.Thr709Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2126C>A
  hgvsp: ENSP00000411103.1:p.Thr709Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2729C>A
  hgvsp: ENSP00000235372.6:p.Thr910Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7336C>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31037C>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2729C>A
  hgvsp: ENSP00000312352.5:p.Thr910Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5991C>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7336C>A
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr910Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-14107020-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107020
    reference: chr 1
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2127C>G
  hgvsp: ENST00000343137.4:c.2127C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2730C>G
  hgvsp: ENST00000311066.5:c.2730C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2730C>G
  hgvsp: ENST00000235372.7:c.2730C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7337C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2127C>G
  hgvsp: ENST00000413440.1:c.2127C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7337C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31038C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5990C>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr910Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
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: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-14107025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107025
    reference: chr 1
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7342G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2735G>A
  hgvsp: ENSP00000312352.5:p.Ser912Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7342G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31043G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2132G>A
  hgvsp: ENSP00000411103.1:p.Ser711Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2132G>A
  hgvsp: ENSP00000341621.4:p.Ser711Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2735G>A
  hgvsp: ENSP00000235372.6:p.Ser912Asn
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5985G>A
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser912Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-14107025-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107025
    reference: chr 1
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2735G>T
  hgvsp: ENSP00000235372.6:p.Ser912Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5985G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7342G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2132G>T
  hgvsp: ENSP00000411103.1:p.Ser711Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2132G>T
  hgvsp: ENSP00000341621.4:p.Ser711Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2735G>T
  hgvsp: ENSP00000312352.5:p.Ser912Ile
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7342G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31043G>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11843
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser912Ile
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-14107037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107037
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107037
    reference: chr 1
allele count: 8
allele frequency: 6.612116703859823e-5
allele num: 120990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31055G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2747G>A
  hgvsp: ENSP00000235372.6:p.Cys916Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7354G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2144G>A
  hgvsp: ENSP00000411103.1:p.Cys715Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5973G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2144G>A
  hgvsp: ENSP00000341621.4:p.Cys715Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7354G>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2747G>A
  hgvsp: ENSP00000312352.5:p.Cys916Tyr
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11850
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys916Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-14107043-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107043
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107043
    reference: chr 1
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2150C>G
  hgvsp: ENSP00000411103.1:p.Ser717Cys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2753C>G
  hgvsp: ENSP00000312352.5:p.Ser918Cys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7360C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2150C>G
  hgvsp: ENSP00000341621.4:p.Ser717Cys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5967C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2753C>G
  hgvsp: ENSP00000235372.6:p.Ser918Cys
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7360C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31061C>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser918Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-14107046-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107046
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107046
    reference: chr 1
allele count: 3
allele frequency: 2.479174930583102e-5
allele num: 121008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2153T>G
  hgvsp: ENSP00000341621.4:p.Leu718Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2756T>G
  hgvsp: ENSP00000235372.6:p.Leu919Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2153T>G
  hgvsp: ENSP00000411103.1:p.Leu718Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7363T>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7363T>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2756T>G
  hgvsp: ENSP00000312352.5:p.Leu919Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31064T>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5964T>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu919Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

1-14107052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107052
    reference: chr 1
allele count: 3
allele frequency: 2.478519497686715e-5
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7369C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2159C>T
  hgvsp: ENSP00000411103.1:p.Ala720Val
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5958C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7369C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2762C>T
  hgvsp: ENSP00000312352.5:p.Ala921Val
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2159C>T
  hgvsp: ENSP00000341621.4:p.Ala720Val
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2762C>T
  hgvsp: ENSP00000235372.6:p.Ala921Val
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31070C>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala921Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-14107057-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107057
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107057
    reference: chr 1
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7374C>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31075C>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2164C>A
  hgvsp: ENSP00000341621.4:p.Pro722Thr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2164C>A
  hgvsp: ENSP00000411103.1:p.Pro722Thr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5953C>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7374C>A
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2767C>A
  hgvsp: ENSP00000312352.5:p.Pro923Thr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2767C>A
  hgvsp: ENSP00000235372.6:p.Pro923Thr
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro923Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-14107066-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107066
    reference: chr 1
allele count: 2
allele frequency: 1.651500388102591e-5
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2776G>T
  hgvsp: ENSP00000312352.5:p.Asp926Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7383G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2173G>T
  hgvsp: ENSP00000341621.4:p.Asp725Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5944G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2173G>T
  hgvsp: ENSP00000411103.1:p.Asp725Tyr
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7383G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31084G>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2776G>T
  hgvsp: ENSP00000235372.6:p.Asp926Tyr
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11843
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp926Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-14107068-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107068
    reference: chr 1
allele count: 2
allele frequency: 1.651091371396493e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7385C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2175C>T
  hgvsp: ENST00000343137.4:c.2175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5942C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2778C>T
  hgvsp: ENST00000235372.7:c.2778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2778C>T
  hgvsp: ENST00000311066.5:c.2778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2175C>T
  hgvsp: ENST00000413440.1:c.2175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7385C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31086C>T
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7759
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp926Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-14107071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107071
    reference: chr 1
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2781C>T
  hgvsp: ENST00000235372.7:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2178C>T
  hgvsp: ENST00000343137.4:c.2178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7388C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5939C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31089C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2781C>T
  hgvsp: ENST00000311066.5:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7388C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2178C>T
  hgvsp: ENST00000413440.1:c.2178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu927Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-14107076-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107076
    reference: chr 1
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7393C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2183C>G
  hgvsp: ENSP00000341621.4:p.Pro728Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2786C>G
  hgvsp: ENSP00000312352.5:p.Pro929Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2786C>G
  hgvsp: ENSP00000235372.6:p.Pro929Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5934C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7393C>G
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2183C>G
  hgvsp: ENSP00000411103.1:p.Pro728Arg
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31094C>G
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro929Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-14107076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14107076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 14107076
    reference: chr 1
allele count: 12
allele frequency: 9.900663344444077e-5
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000365216
  ensembl transcript: ENST00000376048
  gene symbol: PRDM2
  hgvsc: ENST00000376048.5:c.511+31094C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000411103
  ensembl transcript: ENST00000413440
  gene symbol: PRDM2
  hgvsc: ENST00000413440.1:c.2183C>T
  hgvsp: ENSP00000411103.1:p.Pro728Leu
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000426737
  ensembl transcript: ENST00000505823
  gene symbol: PRDM2
  hgvsc: ENST00000505823.1:c.19+7393C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000312352
  ensembl transcript: ENST00000311066
  gene symbol: PRDM2
  hgvsc: ENST00000311066.5:c.2786C>T
  hgvsp: ENSP00000312352.5:p.Pro929Leu
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000341621
  ensembl transcript: ENST00000343137
  gene symbol: PRDM2
  hgvsc: ENST00000343137.4:c.2183C>T
  hgvsp: ENSP00000341621.4:p.Pro728Leu
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000425028
  ensembl transcript: ENST00000503842
  gene symbol: PRDM2
  hgvsc: ENST00000503842.1:c.19+7393C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000424253
  ensembl transcript: ENST00000491134
  gene symbol: PRDM2
  hgvsc: ENST00000491134.1:c.*413-5934C>T
  variant of: http://identifiers.org/hgnc/9347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116731
  ensembl protein: ENSP00000235372
  ensembl transcript: ENST00000235372
  gene symbol: PRDM2
  hgvsc: ENST00000235372.7:c.2786C>T
  hgvsp: ENSP00000235372.6:p.Pro929Leu
  variant of: http://identifiers.org/hgnc/9347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro929Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

2-179569466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569466
    reference: chr 2
allele count: 1
allele frequency: 8.622473615230737e-6
allele num: 115976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-9015A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29733T>C
  hgvsp: ENST00000589042.1:c.29733T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33343T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33343T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33343T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.26001T>C
  hgvsp: ENST00000342992.6:c.26001T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28782T>C
  hgvsp: ENST00000591111.1:c.28782T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-9015A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56201A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-9015A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val9911Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-179569478-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569478
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569478
    reference: chr 2
allele count: 1
allele frequency: 8.556076525548445e-6
allele num: 116876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33331A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-9003T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-9003T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33331A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-9003T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28770A>C
  hgvsp: ENSP00000465570.1:p.Glu9590Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25989A>C
  hgvsp: ENSP00000343764.6:p.Glu8663Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33331A>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56189T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29721A>C
  hgvsp: ENSP00000467141.1:p.Glu9907Asp
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28498
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5803
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu9907Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-179569482-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569482
    reference: chr 2
allele count: 1
allele frequency: 8.535481998668465e-6
allele num: 117158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28766T>C
  hgvsp: ENSP00000465570.1:p.Ile9589Thr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25985T>C
  hgvsp: ENSP00000343764.6:p.Ile8662Thr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8999A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8999A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33327T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33327T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29717T>C
  hgvsp: ENSP00000467141.1:p.Ile9906Thr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56185A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8999A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33327T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile9906Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-179569483-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569483
    reference: chr 2
allele count: 1
allele frequency: 8.52980313214371e-6
allele num: 117236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33326A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28765A>G
  hgvsp: ENSP00000465570.1:p.Ile9589Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8998T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8998T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33326A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56184T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29716A>G
  hgvsp: ENSP00000467141.1:p.Ile9906Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25984A>G
  hgvsp: ENSP00000343764.6:p.Ile8662Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8998T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33326A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile9906Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

2-179569503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569503
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569503
    reference: chr 2
allele count: 1
allele frequency: 8.480181815098116e-6
allele num: 117922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8978G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8978G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33306C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28745C>T
  hgvsp: ENSP00000465570.1:p.Pro9582Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33306C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8978G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29696C>T
  hgvsp: ENSP00000467141.1:p.Pro9899Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25964C>T
  hgvsp: ENSP00000343764.6:p.Pro8655Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56164G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33306C>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro9899Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-179569515-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569515
    reference: chr 2
allele count: 1
allele frequency: 8.463817181548878e-6
allele num: 118150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56152A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29695-11T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8966A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33294T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8966A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28744-11T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33294T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25963-11T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8966A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33294T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-179569518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569518
    reference: chr 2
allele count: 2
allele frequency: 1.691961490956466e-5
allele num: 118206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28744-14C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33291C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56149G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33291C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29695-14C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33291C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8963G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8963G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25963-14C>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8963G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-179569518-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569518
    reference: chr 2
allele count: 1
allele frequency: 8.459807454782329e-6
allele num: 118206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8963G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33291C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33291C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25963-14C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56149G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33291C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28744-14C>A
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8963G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8963G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29695-14C>A
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-179569519-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569519
    reference: chr 2
allele count: 1
allele frequency: 8.450799445627557e-6
allele num: 118332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33290T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8962A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8962A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28744-15T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8962A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25963-15T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33290T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29695-15T>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56148A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33290T>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

2-179569534-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569534
    reference: chr 2
allele count: 1
allele frequency: 8.432698632216282e-6
allele num: 118586
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29695-30C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8947G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28744-30C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8947G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56133G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33275C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33275C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33275C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25963-30C>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8947G>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-179569560-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569559
    reference: chr 2
allele count: 1
allele frequency: 8.387713677005921e-6
allele num: 119222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8919delA
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29694+43delT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33248delT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28743+43delT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8919delA
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8919delA
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56105delA
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33248delT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25962+43delT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33248delT
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: CA
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-179569560-CAAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569557
    reference: chr 2
allele count: 1
allele frequency: 8.387713677005921e-6
allele num: 119222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28743+41_28743+43delATT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29694+41_29694+43delATT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8915_125-8913delTAA
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8915_520-8913delTAA
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56101_199-56099delTAA
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33246_13282+33248delATT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33246_13858+33248delATT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8915_212-8913delTAA
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33246_13657+33248delATT
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25962+41_25962+43delATT
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: CAAT
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-179569562-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569562
    reference: chr 2
allele count: 1
allele frequency: 8.380122349786308e-6
allele num: 119330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33247T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8919A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28743+42T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8919A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33247T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33247T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29694+42T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25962+42T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56105A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8919A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-179569570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569570
    reference: chr 2
allele count: 2
allele frequency: 1.672996168838773e-5
allele num: 119546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33239A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8911T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28743+34A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25962+34A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56097T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33239A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8911T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33239A>G
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8911T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29694+34A>G
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-179569583-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569583
    reference: chr 2
allele count: 517
allele frequency: 4.311279374239064e-3
allele num: 119918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33226A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56084T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33226A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8898T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8898T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8898T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28743+21A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33226A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29694+21A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25962+21A>T
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 15537
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 28024
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6363
  bin: 9.75e1
  variant carriers: 504
num of homozygotes: 7
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-179569584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569584
    reference: chr 2
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25962+20T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33225T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33225T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8897A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33225T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28743+20T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29694+20T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56083A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8897A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8897A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-179569593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569593
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569593
    reference: chr 2
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8888A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33216T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33216T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8888A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29694+11T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33216T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56074A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25962+11T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8888A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28743+11T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

2-179569615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569615
    reference: chr 2
allele count: 2
allele frequency: 1.658759911090469e-5
allele num: 120572
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29683T>C
  hgvsp: ENSP00000467141.1:p.Ser9895Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33194T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8866A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25951T>C
  hgvsp: ENSP00000343764.6:p.Ser8651Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33194T>C
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56052A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8866A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28732T>C
  hgvsp: ENSP00000465570.1:p.Ser9578Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8866A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33194T>C
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6206
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser9895Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/2-179569616-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569616
    reference: chr 2
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8865C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56051C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25950G>T
  hgvsp: ENST00000342992.6:c.25950G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29682G>T
  hgvsp: ENST00000589042.1:c.29682G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28731G>T
  hgvsp: ENST00000591111.1:c.28731G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33193G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8865C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33193G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33193G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8865C>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu9894Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-179569619-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569619
    reference: chr 2
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8862T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28728A>T
  hgvsp: ENSP00000465570.1:p.Arg9576Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33190A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25947A>T
  hgvsp: ENSP00000343764.6:p.Arg8649Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29679A>T
  hgvsp: ENSP00000467141.1:p.Arg9893Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33190A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33190A>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8862T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8862T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56048T>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg9893Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-179569639-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179569639
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179569639
    reference: chr 2
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.13282+33170G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.28708G>T
  hgvsp: ENSP00000465570.1:p.Val9570Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431752
  gene symbol: TTN-AS1
  hgvsc: ENST00000431752.1:n.125-8842C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.13858+33170G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.13657+33170G>T
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.29659G>T
  hgvsp: ENSP00000467141.1:p.Val9887Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.199-56028C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.25927G>T
  hgvsp: ENSP00000343764.6:p.Val8643Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589830
  gene symbol: TTN-AS1
  hgvsc: ENST00000589830.1:n.212-8842C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.520-8842C>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val9887Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C

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

GenotypeQuality
all individuals: 28115
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 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: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.614e0

VQSLOD
type: SiteQuality
SIO_000300: -2.205e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e0

DP
type: SiteQuality
SIO_000300: 2.159055e6

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
all individuals: 3229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 2.159151e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.512e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.354e0

FS
type: SiteQuality
SIO_000300: 1.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 7885
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1960
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11875
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 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: 66726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.488e0

QD
type: SiteQuality
SIO_000300: 1.296e1

DP
type: SiteQuality
SIO_000300: 2.158847e6

FS
type: SiteQuality
SIO_000300: 1.2773e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.312e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

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

GenotypeQuality
all individuals: 2608
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

FS
type: SiteQuality
SIO_000300: 8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 2.158867e6

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7881
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11875
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 9.25e1
variant carriers: 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: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 7.092e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

DP
type: SiteQuality
SIO_000300: 2.158917e6

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7880
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1959
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.159141e6

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7880
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11874
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.299e1

DP
type: SiteQuality
SIO_000300: 2.159141e6

GenotypeQuality
all individuals: 1959
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11874
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28076
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: 1.23e-1

ReadPosRankSum
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SIO_000300: 1.35e0

InbreedingCoeff
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SIO_000300: 5.2e-3

MQ
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SIO_000300: 5.972e1

MQRankSum
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SIO_000300: 4.76e-1

ClippingRankSum
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SIO_000300: -4.48e-1

FS
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SIO_000300: 0.0e0

QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 2.158635e6

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele 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: 66714
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: -2.096e0

DP
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VQSLOD
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

FS
type: SiteQuality
SIO_000300: 2.979e0

ClippingRankSum
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SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -1.481e0

MQ
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SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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
allele num: 16510
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
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MQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 1.762e0

InbreedingCoeff
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SIO_000300: 8.399999999999999e-3

ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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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

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

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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

Latino
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allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 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

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 9.436999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -5.444e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

DP
type: SiteQuality
SIO_000300: 2.157119e6

QD
type: SiteQuality
SIO_000300: 1.257e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1958
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
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: -6.76e-1

DP
type: SiteQuality
SIO_000300: 2.15655e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.65e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.64e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 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: 16510
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.301e0

VQSLOD
type: SiteQuality
SIO_000300: -2.173e-1

FS
type: SiteQuality
SIO_000300: 8.923e0

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.991e1

QD
type: SiteQuality
SIO_000300: 1.197e1

DP
type: SiteQuality
SIO_000300: 2.156406e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

DP
type: SiteQuality
SIO_000300: 2.153598e6

VQSLOD
type: SiteQuality
SIO_000300: -3.206e0

QD
type: SiteQuality
SIO_000300: 1.43e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.946e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 2.152564e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.93e0

DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

FS
type: SiteQuality
SIO_000300: 3.127e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.006e0

QD
type: SiteQuality
SIO_000300: 1.746e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

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

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Latino
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Other
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East Asian
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allele num: 8652
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

Latino
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allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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Other
type: Population
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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QD
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
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

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

FS
type: SiteQuality
SIO_000300: 1.785e0

QD
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SIO_000300: 1.352e1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
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SIO_000300: 8.0e-4

ReadPosRankSum
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SIO_000300: 3.59e-1

BaseQRankSum
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SIO_000300: -3.845e0

ClippingRankSum
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SIO_000300: -4.2e-2

MQRankSum
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MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.404713237946375e-4
allele num: 66536
num of homozygotes: 0

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

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

South Asian
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allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 4.624277456647399e-4
allele num: 8650
num of homozygotes: 0

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

DP
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SIO_000300: 2.148213e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

ReadPosRankSum
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FS
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InbreedingCoeff
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SIO_000300: 2.0e-4

VQSLOD
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MQRankSum
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MQ
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SIO_000300: 5.951e1

QD
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SIO_000300: 1.302e1

BaseQRankSum
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SIO_000300: -2.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
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: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.146114e6

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.78e-2

ClippingRankSum
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SIO_000300: -2.403e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
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: 66536
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 3.968e0

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.145243e6

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

BaseQRankSum
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SIO_000300: 6.11e0

GenotypeQuality
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variant carriers: 0

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

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: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006253006253006e-5
allele num: 66528
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: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
SIO_000300: 2.143693e6

BaseQRankSum
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SIO_000300: -3.883e0

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.693679720822024e-5
allele num: 10316
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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ClippingRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.915e1

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

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.140955e6

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

African
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Latino
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele num: 66476
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European (Finnish)
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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Other
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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QD
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1955
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
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: 1.15606936416185e-4
allele num: 8650
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: 10290
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.218e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 2.14026e6

FS
type: SiteQuality
SIO_000300: 1.0123e1

QD
type: SiteQuality
SIO_000300: 1.082e1

GenotypeQuality
all individuals: 1955
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7717
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
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: 10282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.829e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 1.3425e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 2.139962e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.082e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 429
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7719
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

FS
type: SiteQuality
SIO_000300: 5.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.140085e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

QD
type: SiteQuality
SIO_000300: 1.736e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

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: 11574
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.039e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.685e0

DP
type: SiteQuality
SIO_000300: 2.1405e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e0

QD
type: SiteQuality
SIO_000300: 1.528e1

GenotypeQuality
all individuals: 1954
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 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: 10284
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.685e0

FS
type: SiteQuality
SIO_000300: 2.039e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

DP
type: SiteQuality
SIO_000300: 2.1405e6

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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203912716328066e-4
allele num: 66450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 906
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.159e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 2.141418e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.173e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11842
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
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: 16510
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.479e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 2.14159e6

QD
type: SiteQuality
SIO_000300: 1.454e1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
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: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.142048e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

FS
type: SiteQuality
SIO_000300: 5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 166
bin: 3.25e1
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GenotypeQuality
all individuals: 7739
bin: 6.75e1
variant carriers: 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: 10300
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: 3
allele frequency: 4.51222813825467e-5
allele num: 66486
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: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.688e0

QD
type: SiteQuality
SIO_000300: 1.492e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.986e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 328
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GenotypeQuality
all individuals: 1607
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
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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

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

African
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allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

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

FS
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10310
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Latino
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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: 3.005530175522962e-5
allele num: 66544
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00507858280494e-5
allele num: 66554
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele num: 16510
num of homozygotes: 0

East Asian
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allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

African
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num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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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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bin: 5.25e1
variant carriers: 0

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 frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

FS
type: SiteQuality
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DP
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QD
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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num of homozygotes: 0

South Asian
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allele frequency: 6.664243305464679e-4
allele num: 16506
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European (Finnish)
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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: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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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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East Asian
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num of homozygotes: 0

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

East Asian
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European (Non-Finnish)
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Other
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Latino
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African
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South Asian
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QD
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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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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European (Non-Finnish)
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allele num: 64528
num of homozygotes: 0

Latino
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African
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European (Finnish)
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South Asian
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Other
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East Asian
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MQ
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
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SIO_000300: 1.056e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 2.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 761
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548467017652524e-5
allele num: 64580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.541e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.214e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.704264e6

FS
type: SiteQuality
SIO_000300: 1.451e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.959e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3001
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534260026389273e-5
allele num: 65178
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.011e1

InbreedingCoeff
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SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.718877e6

VQSLOD
type: SiteQuality
SIO_000300: -9.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.184e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2703
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529800514012973e-5
allele num: 65368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 1.036e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

DP
type: SiteQuality
SIO_000300: 1.725768e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 1037
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.058665198507371e-5
allele num: 65388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.539e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 3.936e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.730262e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.936e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.730262e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65464
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.297229219143577e-5
allele num: 15880
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.149e1

FS
type: SiteQuality
SIO_000300: 3.425e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65680
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8566
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9676
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South Asian
type: Population
allele count: 1
allele frequency: 6.338742393509128e-5
allele num: 15776
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

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

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.363e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.743796e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.995e1

FS
type: SiteQuality
SIO_000300: 3.827e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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QD
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SIO_000300: 1.606e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 524
bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513454611496201e-5
allele num: 66074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.606e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

FS
type: SiteQuality
SIO_000300: 3.827e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.995e1

DP
type: SiteQuality
SIO_000300: 1.770279e6

GenotypeQuality
all individuals: 585
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7032
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.697e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

VQSLOD
type: SiteQuality
SIO_000300: -8.917e-1

DP
type: SiteQuality
SIO_000300: 1.771596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 23
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7088
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variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.32396002788752e-4
allele num: 8606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 1.78006e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.804e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.638e1

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
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variant carriers: 0

GenotypeQuality
all individuals: 178
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variant carriers: 0

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

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 34536
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variant carriers: 1

GenotypeQuality
all individuals: 7127
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variant carriers: 1

GenotypeQuality
all individuals: 985
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variant carriers: 2

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

GenotypeQuality
all individuals: 3610
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3014
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variant carriers: 0

GenotypeQuality
all individuals: 198
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variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 384
allele frequency: 2.379477010782005e-2
allele num: 16138
num of homozygotes: 7

Latino
type: Population
allele count: 13
allele frequency: 1.127493495229835e-3
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 115
allele frequency: 1.733128372064985e-3
allele num: 66354
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.044989775051125e-4
allele num: 9780
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

DP
type: SiteQuality
SIO_000300: 1.80725e6

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

QD
type: SiteQuality
SIO_000300: 1.358e1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 7154
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variant carriers: 0

GenotypeQuality
all individuals: 2289
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variant carriers: 0

GenotypeQuality
all individuals: 1057
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 988
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variant carriers: 0

GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 6202
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GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 3629
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.166e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 1.808551e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

QD
type: SiteQuality
SIO_000300: 1.713e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

GenotypeQuality
all individuals: 3648
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7209
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 2293
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 35143
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variant carriers: 0

GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 6203
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GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 359
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variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 9.25e1
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GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 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: 9782
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
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: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 1.814771e6

FS
type: SiteQuality
SIO_000300: 3.631e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.239e0

QD
type: SiteQuality
SIO_000300: 1.696e1

VQSLOD
type: SiteQuality
SIO_000300: -1.021e0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
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GenotypeQuality
all individuals: 105
bin: 2.25e1
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GenotypeQuality
all individuals: 1061
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 35657
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
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GenotypeQuality
all individuals: 3652
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2297
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GenotypeQuality
all individuals: 7278
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variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 16442
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: 9796
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.576e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.69e0

DP
type: SiteQuality
SIO_000300: 1.822118e6

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 1.3141e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

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

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7276
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 1061
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variant carriers: 0

GenotypeQuality
all individuals: 2296
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 990
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variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
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: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.371e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.411e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.862e0

FS
type: SiteQuality
SIO_000300: 3.937e0

DP
type: SiteQuality
SIO_000300: 1.822311e6

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

GenotypeQuality
all individuals: 3047
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 1.822662e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.25e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

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

GenotypeQuality
all individuals: 35742
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6209
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 7294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
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: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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