2-182774653-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774653
    reference: chr 2
allele count: 2
allele frequency: 1.672073036150219e-5
allele num: 119612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*978C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.982C>G
  hgvsp: ENSP00000409867.2:p.His328Asp
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*978C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*978C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.773C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1441C>G
  hgvsp: ENSP00000388731.2:p.His481Asp
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1441C>G
  hgvsp: ENSP00000387319.1:p.His481Asp
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1441C>G
  hgvsp: ENSP00000314669.7:p.His481Asp
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36152
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His481Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-182774653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774653
    reference: chr 2
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*978C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1441C>T
  hgvsp: ENSP00000314669.7:p.His481Tyr
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*978C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1441C>T
  hgvsp: ENSP00000388731.2:p.His481Tyr
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1441C>T
  hgvsp: ENSP00000387319.1:p.His481Tyr
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*978C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.982C>T
  hgvsp: ENSP00000409867.2:p.His328Tyr
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.773C>T
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His481Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

2-182774659-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774659
    reference: chr 2
allele count: 1
allele frequency: 8.36050497450046e-6
allele num: 119610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*984C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1447C>G
  hgvsp: ENSP00000387319.1:p.Pro483Ala
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*984C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1447C>G
  hgvsp: ENSP00000314669.7:p.Pro483Ala
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*984C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.988C>G
  hgvsp: ENSP00000409867.2:p.Pro330Ala
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1447C>G
  hgvsp: ENSP00000388731.2:p.Pro483Ala
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.779C>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro483Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-182774670-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774670
    reference: chr 2
allele count: 4
allele frequency: 3.358691453809596e-5
allele num: 119094
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1458C>A
  hgvsp: ENSP00000388731.2:p.Tyr486Ter
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*995C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*995C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.790C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*995C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1458C>A
  hgvsp: ENSP00000387319.1:p.Tyr486Ter
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1458C>A
  hgvsp: ENSP00000314669.7:p.Tyr486Ter
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.999C>A
  hgvsp: ENSP00000409867.2:p.Tyr333Ter
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15035
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr486Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-182774676-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774676
    reference: chr 2
allele count: 4
allele frequency: 3.375242595561556e-5
allele num: 118510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.796A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1001A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1464A>G
  hgvsp: ENST00000320370.7:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1464A>G
  hgvsp: ENST00000409001.1:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1005A>G
  hgvsp: ENST00000428267.2:c.1005A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1464A>G
  hgvsp: ENST00000431877.2:c.1464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1001A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1001A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu488Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-182774684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774684
    reference: chr 2
allele count: 1
allele frequency: 8.510783162266591e-6
allele num: 117498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1009C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1472C>T
  hgvsp: ENSP00000388731.2:p.Thr491Met
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1013C>T
  hgvsp: ENSP00000409867.2:p.Thr338Met
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1009C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.804C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1009C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1472C>T
  hgvsp: ENSP00000387319.1:p.Thr491Met
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1472C>T
  hgvsp: ENSP00000314669.7:p.Thr491Met
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr491Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-182774685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774685
    reference: chr 2
allele count: 6
allele frequency: 5.112910097997443e-5
allele num: 117350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1014G>A
  hgvsp: ENST00000428267.2:c.1014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.805G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1010G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1010G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1473G>A
  hgvsp: ENST00000431877.2:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1010G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1473G>A
  hgvsp: ENST00000409001.1:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1473G>A
  hgvsp: ENST00000320370.7:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32344
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr491Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-182774690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774690
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774690
    reference: chr 2
allele count: 4
allele frequency: 3.432651379925855e-5
allele num: 116528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.810C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1478C>T
  hgvsp: ENSP00000314669.7:p.Ser493Leu
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1019C>T
  hgvsp: ENSP00000409867.2:p.Ser340Leu
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1478C>T
  hgvsp: ENSP00000387319.1:p.Ser493Leu
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1015C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1015C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1015C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1478C>T
  hgvsp: ENSP00000388731.2:p.Ser493Leu
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser493Leu
num of homozygotes: 1
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-182774691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774691
    reference: chr 2
allele count: 2
allele frequency: 1.719808757266192e-5
allele num: 116292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.811G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1020G>A
  hgvsp: ENST00000428267.2:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1479G>A
  hgvsp: ENST00000409001.1:c.1479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1016G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1016G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1479G>A
  hgvsp: ENST00000320370.7:c.1479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1479G>A
  hgvsp: ENST00000431877.2:c.1479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1016G>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser493Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-182774707-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774707
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774707
    reference: chr 2
allele count: 1
allele frequency: 8.844704675310891e-6
allele num: 113062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+9A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+9A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+9A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+9A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+9A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+9A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+9A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+9A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

2-182774711-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774711
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774711
    reference: chr 2
allele count: 915
allele frequency: 8.158134060878404e-3
allele num: 112158
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+13G>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+13G>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+13G>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+13G>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+13G>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+13G>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+13G>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+13G>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 22751
  bin: 2.25e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 2.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 3.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 9.75e1
  variant carriers: 896
num of homozygotes: 7
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

2-182774714-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774713
    reference: chr 2
allele count: 1
allele frequency: 8.947424931104829e-6
allele num: 111764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+18delC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+18delC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+18delC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+18delC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+18delC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+18delC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+18delC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+18delC
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: TC
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-182774740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774740
    reference: chr 2
allele count: 1
allele frequency: 9.635953670334753e-6
allele num: 103778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+42A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+42A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+42A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+42A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+42A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+42A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+42A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+42A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-182774742-ATTAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182774742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182774738
    reference: chr 2
allele count: 1
allele frequency: 9.69142502713599e-6
allele num: 103184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+47_1027+50delAGTT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+47_1486+50delAGTT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+47_818+50delAGTT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+47_*1023+50delAGTT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+47_*1023+50delAGTT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+47_1486+50delAGTT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+47_*1023+50delAGTT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+47_1486+50delAGTT
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13688
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: ATTAG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-182775297-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182775297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182775298
    reference: chr 2
allele count: 29
allele frequency: 1.785714285714286e-3
allele num: 16240
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.-46dupA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+600dupA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+600dupA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+600dupA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+600dupA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+600dupA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+600dupA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+600dupA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+600dupA
  variant of: http://identifiers.org/hgnc/11319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-182775322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182775322
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182775322
    reference: chr 2
allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+624A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+624A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+624A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+624A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.-22A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+624A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+624A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+624A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+624A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-182775332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182775332
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182775332
    reference: chr 2
allele count: 2
allele frequency: 1.225490196078431e-4
allele num: 16320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+634G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+634G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+634G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+634G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+634G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+634G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+634G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+634G>A
  variant of: http://identifiers.org/hgnc/11319
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-182775346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182775346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182775346
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 16342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+648G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+648G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+648G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+648G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+648G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+648G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.3G>A
  hgvsp: ENSP00000386916.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+648G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+648G>A
  variant of: http://identifiers.org/hgnc/11319
canonical: false
consequence: start lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS

2-182775399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182775399
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182775399
    reference: chr 2
allele count: 6
allele frequency: 3.722084367245658e-4
allele num: 16120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+701C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+701C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+701C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+701C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+701C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+701C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+701C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.13+43C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+701C>T
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-182775402-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182775402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182775403
    reference: chr 2
allele count: 549
allele frequency: 4.998179169701384e-2
allele num: 10984
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+714dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+714dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+714dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+714dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.13+56dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+714dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+714dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+714dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+714dupT
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 2.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 46
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-182775402-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182775402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182775401
    reference: chr 2
allele count: 401
allele frequency: 3.650764748725419e-2
allele num: 10984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1486+714delT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1023+714delT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1027+714delT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1023+714delT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1023+714delT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1486+714delT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.818+714delT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.13+56delT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1486+714delT
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 9.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 6.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 21
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: GT
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-182778526-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778526
    reference: chr 2
allele count: 1
allele frequency: 1.188580122186037e-5
allele num: 84134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-46A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-46A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-46A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-46A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-46A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-46A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-46A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-46A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-46A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

2-182778532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778532
    reference: chr 2
allele count: 5
allele frequency: 5.833897276736751e-5
allele num: 85706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-40A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-40A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-40A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-40A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-40A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-40A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-40A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-40A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-40A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10329
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

2-182778534-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778534
    reference: chr 2
allele count: 1
allele frequency: 1.146079262841818e-5
allele num: 87254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-38A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17658
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5660
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

2-182778535-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778535
    reference: chr 2
allele count: 1
allele frequency: 1.140875279514443e-5
allele num: 87652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-37T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-37T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-37T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-37T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-37T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-37T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-37T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-37T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-37T>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

2-182778541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778541
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778541
    reference: chr 2
allele count: 1
allele frequency: 1.110938298486902e-5
allele num: 90014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-31G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-31G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-31G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-31G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-31G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-31G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-31G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-31G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-31G>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-182778543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778543
    reference: chr 2
allele count: 209
allele frequency: 2.286702116020044e-3
allele num: 91398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-29T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-29T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-29T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-29T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-29T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-29T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-29T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-29T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-29T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 9.75e1
  variant carriers: 196
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 3
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-182778544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778544
    reference: chr 2
allele count: 1
allele frequency: 1.087571235915952e-5
allele num: 91948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-28T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-28T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-28T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-28T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-28T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-28T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-28T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-28T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-28T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22562
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

2-182778551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778551
    reference: chr 2
allele count: 47
allele frequency: 4.799934639187892e-4
allele num: 97918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-21G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-21G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-21G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-21G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-21G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-21G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-21G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-21G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-21G>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29408
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-182778555-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778554
    reference: chr 2
allele count: 1
allele frequency: 9.807190632171508e-6
allele num: 101966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-16delA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-16delA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-16delA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-16delA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-16delA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-16delA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-16delA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-16delA
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-16delA
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 32847
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: CA
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-182778556-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778557
    reference: chr 2
allele count: 1
allele frequency: 9.720818104051637e-6
allele num: 102872
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-9dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-9dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-9dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-9dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-9dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-9dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-9dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-9dupT
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-9dupT
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33158
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-182778557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778557
    reference: chr 2
allele count: 2
allele frequency: 1.933824524762623e-5
allele num: 103422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-15T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-15T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-15T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-15T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-15T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-15T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-15T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-15T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-15T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8578
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-182778558-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778558
    reference: chr 2
allele count: 9
allele frequency: 8.629782337712149e-5
allele num: 104290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-14T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-14T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-14T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-14T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-14T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-14T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-14T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-14T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-14T>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34405
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-182778559-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778559
    reference: chr 2
allele count: 1
allele frequency: 9.501548752446648e-6
allele num: 105246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-13T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-13T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-13T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-13T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-13T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-13T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-13T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-13T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-13T>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

2-182778564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778564
    reference: chr 2
allele count: 1
allele frequency: 9.193542455779062e-6
allele num: 108772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028-8A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024-8A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024-8A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487-8A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819-8A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487-8A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024-8A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14-8A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487-8A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1487-8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

2-182778572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778572
    reference: chr 2
allele count: 1
allele frequency: 8.77531678893608e-6
allele num: 113956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487A>G
  hgvsp: ENSP00000387319.1:p.Asp496Gly
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487A>G
  hgvsp: ENSP00000388731.2:p.Asp496Gly
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487A>G
  hgvsp: ENSP00000314669.7:p.Asp496Gly
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028A>G
  hgvsp: ENSP00000409867.2:p.Asp343Gly
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14A>G
  hgvsp: ENSP00000386916.1:p.Asp5Gly
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp496Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-182778572-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778572
    reference: chr 2
allele count: 1
allele frequency: 8.77531678893608e-6
allele num: 113956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1028A>T
  hgvsp: ENSP00000409867.2:p.Asp343Val
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.14A>T
  hgvsp: ENSP00000386916.1:p.Asp5Val
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1024A>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1024A>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1487A>T
  hgvsp: ENSP00000387319.1:p.Asp496Val
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.819A>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1487A>T
  hgvsp: ENSP00000388731.2:p.Asp496Val
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1487A>T
  hgvsp: ENSP00000314669.7:p.Asp496Val
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1024A>T
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp496Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-182778573-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778573
    reference: chr 2
allele count: 1
allele frequency: 8.738814317673378e-6
allele num: 114432
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1488T>G
  hgvsp: ENSP00000388731.2:p.Asp496Glu
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1488T>G
  hgvsp: ENSP00000387319.1:p.Asp496Glu
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.820T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1025T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1025T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1488T>G
  hgvsp: ENSP00000314669.7:p.Asp496Glu
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.15T>G
  hgvsp: ENSP00000386916.1:p.Asp5Glu
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1029T>G
  hgvsp: ENSP00000409867.2:p.Asp343Glu
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1025T>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp496Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-182778583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778583
    reference: chr 2
allele count: 1
allele frequency: 8.51643672287515e-6
allele num: 117420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1035C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1498C>T
  hgvsp: ENSP00000387319.1:p.Arg500Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.25C>T
  hgvsp: ENSP00000386916.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1498C>T
  hgvsp: ENSP00000388731.2:p.Arg500Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1498C>T
  hgvsp: ENSP00000314669.7:p.Arg500Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1039C>T
  hgvsp: ENSP00000409867.2:p.Arg347Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1035C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1035C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.830C>T
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg500Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

2-182778584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778584
    reference: chr 2
allele count: 1
allele frequency: 8.492569002123141e-6
allele num: 117750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.26G>A
  hgvsp: ENSP00000386916.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1499G>A
  hgvsp: ENSP00000314669.7:p.Arg500His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1499G>A
  hgvsp: ENSP00000387319.1:p.Arg500His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1036G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1036G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1036G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1040G>A
  hgvsp: ENSP00000409867.2:p.Arg347His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1499G>A
  hgvsp: ENSP00000388731.2:p.Arg500His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.831G>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg500His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-182778594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778594
    reference: chr 2
allele count: 1
allele frequency: 8.40279645065878e-6
allele num: 119008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1050T>C
  hgvsp: ENST00000428267.2:c.1050T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.841T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1046T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1509T>C
  hgvsp: ENST00000320370.7:c.1509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1046T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1046T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.36T>C
  hgvsp: ENST00000409136.1:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1509T>C
  hgvsp: ENST00000431877.2:c.1509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1509T>C
  hgvsp: ENST00000409001.1:c.1509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser503Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-182778597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778597
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778597
    reference: chr 2
allele count: 1
allele frequency: 8.39433214693439e-6
allele num: 119128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1512G>A
  hgvsp: ENST00000431877.2:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.39G>A
  hgvsp: ENST00000409136.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1053G>A
  hgvsp: ENST00000428267.2:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1512G>A
  hgvsp: ENST00000320370.7:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1049G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.844G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1049G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1512G>A
  hgvsp: ENST00000409001.1:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1049G>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln504Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-182778598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778598
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778598
    reference: chr 2
allele count: 2
allele frequency: 1.678302900107411e-5
allele num: 119168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1050C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1054C>T
  hgvsp: ENSP00000409867.2:p.His352Tyr
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1513C>T
  hgvsp: ENSP00000388731.2:p.His505Tyr
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1513C>T
  hgvsp: ENSP00000314669.7:p.His505Tyr
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.845C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1050C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1513C>T
  hgvsp: ENSP00000387319.1:p.His505Tyr
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1050C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.40C>T
  hgvsp: ENSP00000386916.1:p.His14Tyr
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His505Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

2-182778603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778603
    reference: chr 2
allele count: 1
allele frequency: 8.380262805041566e-6
allele num: 119328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.850C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1059C>T
  hgvsp: ENST00000428267.2:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1055C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1518C>T
  hgvsp: ENST00000320370.7:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1055C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1518C>T
  hgvsp: ENST00000431877.2:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.45C>T
  hgvsp: ENST00000409136.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1518C>T
  hgvsp: ENST00000409001.1:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1055C>T
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser506Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-182778604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778604
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778604
    reference: chr 2
allele count: 1
allele frequency: 8.378718056137411e-6
allele num: 119350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1519G>A
  hgvsp: ENSP00000387319.1:p.Asp507Asn
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1519G>A
  hgvsp: ENSP00000314669.7:p.Asp507Asn
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.46G>A
  hgvsp: ENSP00000386916.1:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.851G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1060G>A
  hgvsp: ENSP00000409867.2:p.Asp354Asn
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1519G>A
  hgvsp: ENSP00000388731.2:p.Asp507Asn
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1056G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1056G>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1056G>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42881
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp507Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-182778606-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778606
    reference: chr 2
allele count: 1
allele frequency: 8.374648264772879e-6
allele num: 119408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.48T>C
  hgvsp: ENST00000409136.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.853T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1521T>C
  hgvsp: ENST00000431877.2:c.1521T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1521T>C
  hgvsp: ENST00000320370.7:c.1521T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1062T>C
  hgvsp: ENST00000428267.2:c.1062T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1058T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1521T>C
  hgvsp: ENST00000409001.1:c.1521T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1058T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1058T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp507Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-182778615-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778615
    reference: chr 2
allele count: 2
allele frequency: 1.673528132007899e-5
allele num: 119508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1071T>A
  hgvsp: ENST00000428267.2:c.1071T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1530T>A
  hgvsp: ENST00000431877.2:c.1530T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1530T>A
  hgvsp: ENST00000320370.7:c.1530T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1067T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1067T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1530T>A
  hgvsp: ENST00000409001.1:c.1530T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.862T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.57T>A
  hgvsp: ENST00000409136.1:c.57T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1067T>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly510Gly
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: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-182778621-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778621
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778621
    reference: chr 2
allele count: 1
allele frequency: 8.371423309391063e-6
allele num: 119454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.868T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1536T>A
  hgvsp: ENST00000431877.2:c.1536T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1073T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.63T>A
  hgvsp: ENST00000409136.1:c.63T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1073T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1077T>A
  hgvsp: ENST00000428267.2:c.1077T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1073T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1536T>A
  hgvsp: ENST00000320370.7:c.1536T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1536T>A
  hgvsp: ENST00000409001.1:c.1536T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala512Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-182778629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778629
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778629
    reference: chr 2
allele count: 2
allele frequency: 1.676586469947188e-5
allele num: 119290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1081C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1081C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1544C>G
  hgvsp: ENSP00000388731.2:p.Ser515Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1085C>G
  hgvsp: ENSP00000409867.2:p.Ser362Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.876C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.71C>G
  hgvsp: ENSP00000386916.1:p.Ser24Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1544C>G
  hgvsp: ENSP00000314669.7:p.Ser515Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1544C>G
  hgvsp: ENSP00000387319.1:p.Ser515Cys
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1081C>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9714
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser515Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-182778637-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778637
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778637
    reference: chr 2
allele count: 1
allele frequency: 8.413967185527977e-6
allele num: 118850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1089T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.79T>A
  hgvsp: ENSP00000386916.1:p.Cys27Ser
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1093T>A
  hgvsp: ENSP00000409867.2:p.Cys365Ser
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1089T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1552T>A
  hgvsp: ENSP00000388731.2:p.Cys518Ser
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1089T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.884T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1552T>A
  hgvsp: ENSP00000314669.7:p.Cys518Ser
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1552T>A
  hgvsp: ENSP00000387319.1:p.Cys518Ser
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys518Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-182778642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778642
    reference: chr 2
allele count: 3
allele frequency: 2.534982762117218e-5
allele num: 118344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.84A>G
  hgvsp: ENST00000409136.1:c.84A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1098A>G
  hgvsp: ENST00000428267.2:c.1098A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1094A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1557A>G
  hgvsp: ENST00000409001.1:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1557A>G
  hgvsp: ENST00000320370.7:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1094A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1094A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1557A>G
  hgvsp: ENST00000431877.2:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.889A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40720
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu519Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-182778649-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778649
    reference: chr 2
allele count: 1
allele frequency: 8.529512111907199e-6
allele num: 117240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1564A>C
  hgvsp: ENSP00000387319.1:p.Asn522His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1105A>C
  hgvsp: ENSP00000409867.2:p.Asn369His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.896A>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1101A>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1564A>C
  hgvsp: ENSP00000314669.7:p.Asn522His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1564A>C
  hgvsp: ENSP00000388731.2:p.Asn522His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.91A>C
  hgvsp: ENSP00000386916.1:p.Asn31His
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1101A>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1101A>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn522His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-182778653-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778653
    reference: chr 2
allele count: 1
allele frequency: 8.581775741036335e-6
allele num: 116526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.900A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1105A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1568A>G
  hgvsp: ENSP00000388731.2:p.His523Arg
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.95A>G
  hgvsp: ENSP00000386916.1:p.His32Arg
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1105A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1568A>G
  hgvsp: ENSP00000387319.1:p.His523Arg
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1568A>G
  hgvsp: ENSP00000314669.7:p.His523Arg
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1109A>G
  hgvsp: ENSP00000409867.2:p.His370Arg
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1105A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His523Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

2-182778654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778654
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778654
    reference: chr 2
allele count: 1
allele frequency: 8.583396278239373e-6
allele num: 116504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1106T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.96T>C
  hgvsp: ENST00000409136.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.901T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1569T>C
  hgvsp: ENST00000320370.7:c.1569T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1569T>C
  hgvsp: ENST00000431877.2:c.1569T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1110T>C
  hgvsp: ENST00000428267.2:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1106T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1569T>C
  hgvsp: ENST00000409001.1:c.1569T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1106T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His523His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-182778655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778655
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778655
    reference: chr 2
allele count: 3
allele frequency: 2.579624406686387e-5
allele num: 116296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.902C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1107C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1107C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1570C>T
  hgvsp: ENSP00000387319.1:p.Leu524Phe
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1570C>T
  hgvsp: ENSP00000314669.7:p.Leu524Phe
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1570C>T
  hgvsp: ENSP00000388731.2:p.Leu524Phe
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.97C>T
  hgvsp: ENSP00000386916.1:p.Leu33Phe
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1107C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1111C>T
  hgvsp: ENSP00000409867.2:p.Leu371Phe
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu524Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-182778671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778671
    reference: chr 2
allele count: 1
allele frequency: 8.855513442669405e-6
allele num: 112924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+11C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+11C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+11C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+11C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+11C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+11C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+11C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+11C>T
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+11C>T
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

2-182778672-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778672
    reference: chr 2
allele count: 1
allele frequency: 8.868864962662078e-6
allele num: 112754
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+12T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+12T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+12T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+12T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+12T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+12T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+12T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+12T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+12T>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-182778674-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778674
    reference: chr 2
allele count: 1
allele frequency: 8.905195290932729e-6
allele num: 112294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+14T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+14T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+14T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+14T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+14T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+14T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+14T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+14T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+14T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28097
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

2-182778677-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778677
    reference: chr 2
allele count: 4
allele frequency: 3.596863534997482e-5
allele num: 111208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+17T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+17T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+17T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+17T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+17T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+17T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+17T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+17T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+17T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-182778680-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778680
    reference: chr 2
allele count: 1
allele frequency: 9.006899284852197e-6
allele num: 111026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+20T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+20T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+20T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+20T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+20T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+20T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+20T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+20T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+20T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-182778680-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778680
    reference: chr 2
allele count: 2
allele frequency: 1.801379856970439e-5
allele num: 111026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+20T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+20T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+20T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+20T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+20T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+20T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+20T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+20T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+20T>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

2-182778700-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778700
    reference: chr 2
allele count: 1
allele frequency: 9.578727561830687e-6
allele num: 104398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+40C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+40C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+40C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+40C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+40C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+40C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+40C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+40C>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+40C>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-182778703-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778703
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778703
    reference: chr 2
allele count: 4
allele frequency: 3.919032782709227e-5
allele num: 102066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+43A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+43A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+43A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+43A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+43A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+43A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+43A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+43A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+43A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18684
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-182778704-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182778704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182778704
    reference: chr 2
allele count: 17089
allele frequency: 1.699079321521605e-1
allele num: 100578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1116+44T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1575+44T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1575+44T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1112+44T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1112+44T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1112+44T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.907+44T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.102+44T>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1575+44T>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 2.75e1
  variant carriers: 982
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.5e0
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.25e1
  variant carriers: 2369
genotype depth: GenotypeDepth
  all individuals: 13282
  bin: 1.75e1
  variant carriers: 4393
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 18680
  bin: 1.25e1
  variant carriers: 4345
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 7.5e0
  variant carriers: 1425
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 9.75e1
  variant carriers: 595
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 2.5e0
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 12621
  bin: 2.25e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 267
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 210
num of homozygotes: 1518
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-182779904-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182779904
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182779904
    reference: chr 2
allele count: 1
allele frequency: 8.844704675310891e-6
allele num: 113062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1117-39C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1113-39C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1576-39C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1576-39C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1113-39C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1576-39C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.103-39C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1113-39C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.908-39C>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-182779905-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182779905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182779905
    reference: chr 2
allele count: 3
allele frequency: 2.65050447935257e-5
allele num: 113186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.103-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.908-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1576-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1576-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1113-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1113-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1113-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1576-38A>G
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1117-38A>G
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-182779926-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182779926
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182779926
    reference: chr 2
allele count: 2
allele frequency: 1.73259178404976e-5
allele num: 115434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1576-17C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.908-17C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1576-17C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1113-17C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1576-17C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1117-17C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1113-17C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1113-17C>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.103-17C>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-182779928-ATTTTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182779928
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182779923
    reference: chr 2
allele count: 1
allele frequency: 8.635280301198577e-6
allele num: 115804
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1576-9_1576-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1113-9_*1113-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1117-9_1117-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1113-9_*1113-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.908-9_908-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1113-9_*1113-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1576-9_1576-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.103-9_103-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1576-9_1576-5delTTTTC
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: ATTTTC
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-182779937-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182779937
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182779937
    reference: chr 2
allele count: 1
allele frequency: 8.518903446748335e-6
allele num: 117386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1113-6T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1117-6T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1576-6T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1113-6T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.908-6T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1576-6T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1113-6T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.103-6T>A
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1576-6T>A
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1576-6T>A
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-182779937-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 182779937
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 182779937
    reference: chr 2
allele count: 20
allele frequency: 1.703780689349667e-4
allele num: 117386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000314669
  ensembl transcript: ENST00000320370
  gene symbol: SSFA2
  hgvsc: ENST00000320370.7:c.1576-6T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl transcript: ENST00000491720
  gene symbol: SSFA2
  hgvsc: ENST00000491720.1:n.908-6T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000386916
  ensembl transcript: ENST00000409136
  gene symbol: SSFA2
  hgvsc: ENST00000409136.1:c.103-6T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000388731
  ensembl transcript: ENST00000431877
  gene symbol: SSFA2
  hgvsc: ENST00000431877.2:c.1576-6T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000409867
  ensembl transcript: ENST00000428267
  gene symbol: SSFA2
  hgvsc: ENST00000428267.2:c.1117-6T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000415625
  ensembl transcript: ENST00000416081
  gene symbol: SSFA2
  hgvsc: ENST00000416081.1:c.*1113-6T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000403754
  ensembl transcript: ENST00000440623
  gene symbol: SSFA2
  hgvsc: ENST00000440623.1:c.*1113-6T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000387319
  ensembl transcript: ENST00000409001
  gene symbol: SSFA2
  hgvsc: ENST00000409001.1:c.1576-6T>C
  variant of: http://identifiers.org/hgnc/11319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138434
  ensembl protein: ENSP00000392049
  ensembl transcript: ENST00000454579
  gene symbol: SSFA2
  hgvsc: ENST00000454579.1:c.*1113-6T>C
  variant of: http://identifiers.org/hgnc/11319
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15980
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1576-6T>C
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1351
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 622
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.76522506619594e-4
allele num: 11330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 2.355e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.54041e6

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517634917744187e-5
allele num: 65892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.54041e6

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 2.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5050
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.219679064560268e-5
allele num: 16078
num of homozygotes: 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: 11318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

VQSLOD
type: SiteQuality
SIO_000300: -3.462e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

DP
type: SiteQuality
SIO_000300: 1.541369e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
all individuals: 1442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44947
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.097375080028048e-5
allele num: 65602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.755e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 1.246e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

DP
type: SiteQuality
SIO_000300: 1.535019e6

QD
type: SiteQuality
SIO_000300: 1.383e1

GenotypeQuality
all individuals: 3042
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 262
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44037
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 7.75e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65250
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.510670348983179e-4
allele num: 15932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11168
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.525082e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

FS
type: SiteQuality
SIO_000300: 8.249000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
all individuals: 538
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42553
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 321
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548658861426005e-5
allele num: 64572
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.234e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 1.832e0

DP
type: SiteQuality
SIO_000300: 1.507412e6

GenotypeQuality
all individuals: 3043
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.988071570576541e-4
allele num: 10060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551012811365822e-5
allele num: 64474
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.033423667570009e-5
allele num: 11070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.265662574357676e-4
allele num: 15802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.504558e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.581e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.157e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

GenotypeQuality
all individuals: 456
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 52
bin: 7.5e0
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GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 1275
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variant carriers: 0

GenotypeQuality
all individuals: 4711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 40567
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.271940981938438e-4
allele num: 15724
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.130184367859267e-5
allele num: 63894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.92e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

FS
type: SiteQuality
SIO_000300: 3.225e0

MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

QD
type: SiteQuality
SIO_000300: 1.862e1

DP
type: SiteQuality
SIO_000300: 1.487262e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 3039
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
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GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 4736
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GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.341372044017794e-4
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63736
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 1.03e1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.901e0

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 1.484378e6

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9082
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.624695369618197e-5
allele num: 61550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.039e1

DP
type: SiteQuality
SIO_000300: 1.40179e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e0

FS
type: SiteQuality
SIO_000300: 2.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.037e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30482
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 2

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 591
bin: 9.25e1
variant carriers: 6

African
type: Population
allele count: 8
allele frequency: 8.271298593879239e-4
allele num: 9672
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.750593824228029e-3
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 2.053063802905875e-3
allele num: 6332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 796
allele frequency: 1.305431645237471e-2
allele num: 60976
num of homozygotes: 7

East Asian
type: Population
allele count: 2
allele frequency: 2.420135527589545e-4
allele num: 8264
num of homozygotes: 0

South Asian
type: Population
allele count: 61
allele frequency: 3.973423658155289e-3
allele num: 15352
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 2.891791044776119e-3
allele num: 10720
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

QD
type: SiteQuality
SIO_000300: 1.426e1

DP
type: SiteQuality
SIO_000300: 1.388314e6

GenotypeQuality
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.196172248803828e-3
allele num: 836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.045e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 1.362659e6

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 8.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7780
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variant carriers: 0

GenotypeQuality
all individuals: 871
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8214
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GenotypeQuality
all individuals: 1106
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6236
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.292991983449703e-4
allele num: 7734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.394e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

DP
type: SiteQuality
SIO_000300: 1.139244e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.681e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

QD
type: SiteQuality
SIO_000300: 1.772e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 6314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
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variant carriers: 0

GenotypeQuality
all individuals: 4855
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variant carriers: 0

GenotypeQuality
all individuals: 138
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GenotypeQuality
all individuals: 7667
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variant carriers: 0

GenotypeQuality
all individuals: 373
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GenotypeQuality
all individuals: 593
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GenotypeQuality
all individuals: 822
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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: 1694
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.19e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.134961e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 8.77e0

GenotypeQuality
all individuals: 2641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
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GenotypeQuality
all individuals: 182
bin: 8.25e1
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GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 34
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GenotypeQuality
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GenotypeQuality
all individuals: 1394
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GenotypeQuality
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GenotypeQuality
all individuals: 2061
bin: 9.75e1
variant carriers: 29

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
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GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.821169277799006e-4
allele num: 5234
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.854368932038835e-3
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 26
allele frequency: 1.604938271604938e-2
allele num: 1620
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.035e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

FS
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

QD
type: SiteQuality
SIO_000300: 1.484e1

DP
type: SiteQuality
SIO_000300: 4.42816e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
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variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1338
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GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 4105
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 173
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GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.903311762466692e-4
allele num: 5254
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 4.51852e5

QD
type: SiteQuality
SIO_000300: 9.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 901
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GenotypeQuality
all individuals: 30
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GenotypeQuality
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GenotypeQuality
all individuals: 161
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GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 2056
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 30
bin: 3.75e1
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GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.646202699126753e-4
allele num: 7558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

VQSLOD
type: SiteQuality
SIO_000300: -3.731e-1

DP
type: SiteQuality
SIO_000300: 4.52892e5

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

QD
type: SiteQuality
SIO_000300: 7.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.191e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1207
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 907
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
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: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7572
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.801e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

DP
type: SiteQuality
SIO_000300: 4.53169e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.555555555555556e-3
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.347708894878706e-4
allele num: 7420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

QD
type: SiteQuality
SIO_000300: 1.292e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 4.41034e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

GenotypeQuality
all individuals: 1158
bin: 7.5e0
variant carriers: 33

GenotypeQuality
all individuals: 2170
bin: 2.5e0
variant carriers: 22

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 16

GenotypeQuality
all individuals: 500
bin: 6.25e1
variant carriers: 33

GenotypeQuality
all individuals: 282
bin: 1.75e1
variant carriers: 46

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 36

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 53

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 27

GenotypeQuality
all individuals: 439
bin: 2.75e1
variant carriers: 54

GenotypeQuality
all individuals: 202
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 373
bin: 1.25e1
variant carriers: 31

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 56

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 47

GenotypeQuality
all individuals: 369
bin: 3.75e1
variant carriers: 44

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 19

South Asian
type: Population
allele count: 375
allele frequency: 9.277585353785255e-2
allele num: 4042
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.6e-2
allele num: 750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 135
allele frequency: 3.569539925965098e-2
allele num: 3782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.180469715698393e-4
allele num: 1618
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 2.702702702702703e-2
allele num: 222
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 3.640776699029126e-2
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 3.164556962025317e-2
allele num: 158
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.986e1

QD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 9.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.051e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 4.23647e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

GenotypeQuality
all individuals: 439
bin: 2.75e1
variant carriers: 30

GenotypeQuality
all individuals: 516
bin: 2.25e1
variant carriers: 24

GenotypeQuality
all individuals: 2170
bin: 2.5e0
variant carriers: 12

GenotypeQuality
all individuals: 202
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 97
bin: 8.25e1
variant carriers: 16

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1655
bin: 9.75e1
variant carriers: 167

GenotypeQuality
all individuals: 1158
bin: 7.5e0
variant carriers: 17

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 21

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 13

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 471
bin: 3.25e1
variant carriers: 33

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 13

GenotypeQuality
all individuals: 299
bin: 4.75e1
variant carriers: 16

Other
type: Population
allele count: 5
allele frequency: 3.164556962025317e-2
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 61
allele frequency: 1.509153884215735e-2
allele num: 4042
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.8e-2
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 9.009009009009009e-3
allele num: 222
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 7.03883495145631e-2
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 283
allele frequency: 7.482813326282391e-2
allele num: 3782
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 9.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.051e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 4.23647e5

QD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11917
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 5020
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
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variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.274071041979351e-5
allele num: 43974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.216e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.095235e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4993
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5923
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10044
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8054
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44886
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.377551020408163e-4
allele num: 7840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.137448e6

QD
type: SiteQuality
SIO_000300: 1.713e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11614
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7864
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 704
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.678132678132678e-5
allele num: 13024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45702
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

DP
type: SiteQuality
SIO_000300: 1.15436e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.646e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
all individuals: 365
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4862
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7750
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12408
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5462
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.664009809932556e-5
allele num: 13048
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45938
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

DP
type: SiteQuality
SIO_000300: 1.16268e6

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.336e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 302
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1014
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.111397322748195e-5
allele num: 47362
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.681e0

QD
type: SiteQuality
SIO_000300: 5.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.407e0

DP
type: SiteQuality
SIO_000300: 1.237319e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1042
bin: 7.75e1
variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 456
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 222
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 8.313934153641503e-4
allele num: 48112
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.478312892611427e-5
allele num: 13372
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.738544474393531e-3
allele num: 742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 3.197076958209637e-3
allele num: 8758
num of homozygotes: 0

African
type: Population
allele count: 135
allele frequency: 1.606377915278439e-2
allele num: 8404
num of homozygotes: 3

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 1.262518e6

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.573e1

GenotypeQuality
all individuals: 5054
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48418
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.536098310291859e-4
allele num: 6510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.431e0

DP
type: SiteQuality
SIO_000300: 1.27286e6

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 1.198e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.355e-1

GenotypeQuality
all individuals: 3114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 429
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GenotypeQuality
all individuals: 3575
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variant carriers: 46

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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: 410
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variant carriers: 1

GenotypeQuality
all individuals: 29977
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 8.468378305554487e-4
allele num: 51958
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.254283137962128e-4
allele num: 8872
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.047120418848168e-4
allele num: 9550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.693e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.359e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

DP
type: SiteQuality
SIO_000300: 1.368562e6

QD
type: SiteQuality
SIO_000300: 1.379e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33925
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variant carriers: 0

GenotypeQuality
all individuals: 1911
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variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 865
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variant carriers: 0

GenotypeQuality
all individuals: 3547
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variant carriers: 1

GenotypeQuality
all individuals: 1094
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 428
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GenotypeQuality
all individuals: 380
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GenotypeQuality
all individuals: 818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2698
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.83492972219164e-5
allele num: 54498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.069e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 1.421296e6

MQ
type: SiteQuality
SIO_000300: 6.09e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 454
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 850
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 578
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 34070
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GenotypeQuality
all individuals: 489
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GenotypeQuality
all individuals: 1143
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.816992513990843e-5
allele num: 55036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.43566e6

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeQuality
all individuals: 491
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
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GenotypeQuality
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GenotypeQuality
all individuals: 275
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 472
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variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.611542489797392e-5
allele num: 55378
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14388
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.552e0

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

FS
type: SiteQuality
SIO_000300: 1.817e0

DP
type: SiteQuality
SIO_000300: 1.442939e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

GenotypeQuality
all individuals: 104
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
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GenotypeQuality
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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
all individuals: 404
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variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55916
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.671179883945841e-4
allele num: 9306
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.451064e6

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
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GenotypeQuality
all individuals: 407
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GenotypeQuality
all individuals: 50
bin: 2.5e0
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GenotypeQuality
all individuals: 1166
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 486
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 2.75e1
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GenotypeQuality
all individuals: 833
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.864360241625481e-5
allele num: 14568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.009e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

FS
type: SiteQuality
SIO_000300: 3.052e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 1.457678e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.75e1
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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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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.703635558281372e-5
allele num: 58698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8022
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.023e0

FS
type: SiteQuality
SIO_000300: 5.721e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.521e0

QD
type: SiteQuality
SIO_000300: 1.602e1

MQ
type: SiteQuality
SIO_000300: 5.797e1

DP
type: SiteQuality
SIO_000300: 1.497189e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.578282828282828e-4
allele num: 6336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.552438e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 3.587e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.099e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612383102225089e-5
allele num: 62020
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.552438e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 3.587e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 492
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604569814832643e-5
allele num: 62322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

MQRankSum
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 5.3e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
SIO_000300: -2.825e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555548642006035e-5
allele num: 64286
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.174e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.592163e6

FS
type: SiteQuality
SIO_000300: 2.228e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.550051151688006e-5
allele num: 64514
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 2.456e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.595979e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

South Asian
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.531299767242435e-5
allele num: 65304
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

MQRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

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

Latino
type: Population
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allele frequency: 8.809020436927414e-5
allele num: 11352
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.612371e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.058103975535168e-5
allele num: 65400
num of homozygotes: 0

Other
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

European (Non-Finnish)
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allele frequency: 1.526577718071627e-5
allele num: 65506
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16218
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6498
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East Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 9.02e-1

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -7.59e-1

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

South Asian
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allele frequency: 0.0e0
allele num: 16226
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: 1
allele frequency: 1.526298116548124e-5
allele num: 65518
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6498
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East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 2.62e0

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

East Asian
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allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65550
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.615086e6

FS
type: SiteQuality
SIO_000300: 7.028e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.211e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65636
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.205e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.616124e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524576167825345e-5
allele num: 65592
num of homozygotes: 0

Other
type: Population
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allele num: 902
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8610
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Latino
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

Latino
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Other
type: Population
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European (Finnish)
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European (Non-Finnish)
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allele num: 65490
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African
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South Asian
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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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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variant carriers: 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: 1.533554165133113e-5
allele num: 65208
num of homozygotes: 0

European (Finnish)
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East Asian
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African
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South Asian
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Other
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8562
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: 11310
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European (Finnish)
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allele count: 1
allele frequency: 1.542257865515114e-4
allele num: 6484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.082139004469102e-5
allele num: 64890
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

African
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 4.2e-2

ReadPosRankSum
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
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SIO_000300: 1.82e0

QD
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SIO_000300: 1.097e1

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

East Asian
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allele frequency: 0.0e0
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African
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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: 6450
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.558749259594102e-5
allele num: 64154
num of homozygotes: 0

ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.0e-4

DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10024
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.569760140650509e-5
allele num: 63704
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South 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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VQSLOD
type: SiteQuality
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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QD
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SIO_000300: 1.519e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Other
type: Population
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: 15856
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.570203812454857e-5
allele num: 63686
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 8.947745168217609e-5
allele num: 11176
num of homozygotes: 0

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

South Asian
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Other
type: Population
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allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 1.998401278976818e-4
allele num: 10008
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63540
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6418
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
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SIO_000300: -1.551e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 1
allele frequency: 1.627074520013016e-5
allele num: 61460
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.629301355578728e-5
allele num: 61376
num of homozygotes: 0

Latino
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African
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East Asian
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South Asian
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InbreedingCoeff
type: SiteQuality
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MQ
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FS
type: SiteQuality
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

East Asian
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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DP
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ReadPosRankSum
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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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variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60458
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.61882938326568e-4
allele num: 15274
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

DP
type: SiteQuality
SIO_000300: 1.40082e6

QD
type: SiteQuality
SIO_000300: 1.446e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

FS
type: SiteQuality
SIO_000300: 2.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14366
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10744
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 2.4309e1

DP
type: SiteQuality
SIO_000300: 1.388466e6

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.668e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.361e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.314441019522058e-5
allele num: 60342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.4309e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: -3.668e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

DP
type: SiteQuality
SIO_000300: 1.388466e6

GenotypeQuality
all individuals: 1550
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3566
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1995
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
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GenotypeQuality
all individuals: 8638
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variant carriers: 0

GenotypeQuality
all individuals: 811
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variant carriers: 0

GenotypeQuality
all individuals: 774
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variant carriers: 0

GenotypeQuality
all individuals: 1263
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4851
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variant carriers: 0

GenotypeQuality
all individuals: 5277
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variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1784
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.83477576711251e-5
allele num: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

DP
type: SiteQuality
SIO_000300: 1.242378e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.977e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.838e0

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -3.52e0

QD
type: SiteQuality
SIO_000300: 3.424e1

GenotypeQuality
all individuals: 216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5285
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variant carriers: 0

GenotypeQuality
all individuals: 1849
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variant carriers: 0

GenotypeQuality
all individuals: 7723
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variant carriers: 0

GenotypeQuality
all individuals: 5344
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variant carriers: 0

GenotypeQuality
all individuals: 1406
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variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 487
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GenotypeQuality
all individuals: 332
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GenotypeQuality
all individuals: 6595
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variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.48065329387263e-5
allele num: 54738
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.994003597841295e-5
allele num: 10006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 1.231368e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 223

GenotypeQuality
all individuals: 5466
bin: 3.25e1
variant carriers: 167

GenotypeQuality
all individuals: 4003
bin: 2.75e1
variant carriers: 93

GenotypeQuality
all individuals: 4593
bin: 6.25e1
variant carriers: 132

GenotypeQuality
all individuals: 1393
bin: 6.75e1
variant carriers: 137

GenotypeQuality
all individuals: 511
bin: 8.75e1
variant carriers: 248

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 141

GenotypeQuality
all individuals: 1108
bin: 4.25e1
variant carriers: 138

GenotypeQuality
all individuals: 2323
bin: 7.5e0
variant carriers: 48

GenotypeQuality
all individuals: 1378
bin: 1.25e1
variant carriers: 56

GenotypeQuality
all individuals: 622
bin: 7.25e1
variant carriers: 106

GenotypeQuality
all individuals: 3444
bin: 3.75e1
variant carriers: 208

GenotypeQuality
all individuals: 431
bin: 5.25e1
variant carriers: 230

GenotypeQuality
all individuals: 881
bin: 7.75e1
variant carriers: 174

GenotypeQuality
all individuals: 16827
bin: 9.75e1
variant carriers: 14278

European (Finnish)
type: Population
allele count: 916
allele frequency: 1.557293437606256e-1
allele num: 5882
num of homozygotes: 69

Other
type: Population
allele count: 144
allele frequency: 1.846153846153846e-1
allele num: 780
num of homozygotes: 14

African
type: Population
allele count: 350
allele frequency: 3.914113173786625e-2
allele num: 8942
num of homozygotes: 11

South Asian
type: Population
allele count: 2121
allele frequency: 1.476608187134503e-1
allele num: 14364
num of homozygotes: 170

European (Non-Finnish)
type: Population
allele count: 11647
allele frequency: 2.161495063469676e-1
allele num: 53884
num of homozygotes: 1137

East Asian
type: Population
allele count: 341
allele frequency: 4.885386819484241e-2
allele num: 6980
num of homozygotes: 8

Latino
type: Population
allele count: 1570
allele frequency: 1.610917299404884e-1
allele num: 9746
num of homozygotes: 109

QD
type: SiteQuality
SIO_000300: 1.789e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.87e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.316757e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

GenotypeQuality
all individuals: 16999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
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GenotypeQuality
all individuals: 7539
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4598
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variant carriers: 0

GenotypeQuality
all individuals: 13124
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64564
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.235315847801995e-5
allele num: 10828
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: -4.469e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.881e0

DP
type: SiteQuality
SIO_000300: 2.051551e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.232e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

GenotypeQuality
all individuals: 2976
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13121
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 151
bin: 4.25e1
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GenotypeQuality
all individuals: 485
bin: 3.75e1
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GenotypeQuality
all individuals: 556
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GenotypeQuality
all individuals: 602
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variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 17094
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variant carriers: 0

GenotypeQuality
all individuals: 280
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variant carriers: 0

GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 7539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.60778859527121e-4
allele num: 11504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.272e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.052464e6

FS
type: SiteQuality
SIO_000300: 7.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.194e0

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13120
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2912
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.606683804627249e-4
allele num: 12448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.079356e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.219e-1

GenotypeQuality
all individuals: 19056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 419
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2672
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
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: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65238
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.871536523929471e-5
allele num: 12704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.047e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.215e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 8.32e0

DP
type: SiteQuality
SIO_000300: 2.082963e6

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 1.524576167825345e-5
allele num: 65592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

DP
type: SiteQuality
SIO_000300: 2.098896e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13130
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 8.25e1
variant carriers: 0