http://identifiers.org/exac.variant/2-197990557-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990557
    reference: chr 2
allele count: 6
allele frequency: 4.950903539896031e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.462+4G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.387+4G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.246+4G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.462+4G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.438+4G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.387+4G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.387+4G>T
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.462+4G>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-197990566-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990566
    reference: chr 2
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.382G>C
  hgvsp: ENSP00000338794.5:p.Val128Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.382G>C
  hgvsp: ENSP00000331516.2:p.Val128Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.382G>C
  hgvsp: ENSP00000402420.1:p.Val128Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.241G>C
  hgvsp: ENSP00000437825.1:p.Val81Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.433G>C
  hgvsp: ENSP00000282272.8:p.Val145Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.457G>C
  hgvsp: ENSP00000387141.1:p.Val153Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.457G>C
  hgvsp: ENSP00000387233.1:p.Val153Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*255G>C
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val153Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS

2-197990566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990566
    reference: chr 2
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.457G>A
  hgvsp: ENSP00000387233.1:p.Val153Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.382G>A
  hgvsp: ENSP00000331516.2:p.Val128Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.457G>A
  hgvsp: ENSP00000387141.1:p.Val153Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.241G>A
  hgvsp: ENSP00000437825.1:p.Val81Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.382G>A
  hgvsp: ENSP00000338794.5:p.Val128Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*255G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.433G>A
  hgvsp: ENSP00000282272.8:p.Val145Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.382G>A
  hgvsp: ENSP00000402420.1:p.Val128Met
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10750
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val153Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

2-197990567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990567
    reference: chr 2
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.456C>T
  hgvsp: ENST00000409153.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.381C>T
  hgvsp: ENST00000328737.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.381C>T
  hgvsp: ENST00000450567.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.432C>T
  hgvsp: ENST00000282272.8:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.240C>T
  hgvsp: ENST00000539527.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.381C>T
  hgvsp: ENST00000337207.5:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.456C>T
  hgvsp: ENST00000409919.1:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His152His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-197990572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990572
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.376G>A
  hgvsp: ENSP00000331516.2:p.Gly126Ser
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.427G>A
  hgvsp: ENSP00000282272.8:p.Gly143Ser
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.376G>A
  hgvsp: ENSP00000338794.5:p.Gly126Ser
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.451G>A
  hgvsp: ENSP00000387233.1:p.Gly151Ser
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.235G>A
  hgvsp: ENSP00000437825.1:p.Gly79Ser
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.451G>A
  hgvsp: ENSP00000387141.1:p.Gly151Ser
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.376G>A
  hgvsp: ENSP00000402420.1:p.Gly126Ser
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*249G>A
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly151Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-197990573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990573
    reference: chr 2
allele count: 7
allele frequency: 5.767963085036256e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.375C>T
  hgvsp: ENST00000328737.2:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.375C>T
  hgvsp: ENST00000337207.5:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.375C>T
  hgvsp: ENST00000450567.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.450C>T
  hgvsp: ENST00000409919.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.450C>T
  hgvsp: ENST00000409153.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*248C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.426C>T
  hgvsp: ENST00000282272.8:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.234C>T
  hgvsp: ENST00000539527.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10750
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn150Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

2-197990582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990582
    reference: chr 2
allele count: 5
allele frequency: 4.118955432902216e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.417G>A
  hgvsp: ENST00000282272.8:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.441G>A
  hgvsp: ENST00000409919.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*239G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.441G>A
  hgvsp: ENST00000409153.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.366G>A
  hgvsp: ENST00000337207.5:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.225G>A
  hgvsp: ENST00000539527.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.366G>A
  hgvsp: ENST00000328737.2:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.366G>A
  hgvsp: ENST00000450567.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala147Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-197990583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990583
    reference: chr 2
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.365C>T
  hgvsp: ENSP00000338794.5:p.Ala122Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.365C>T
  hgvsp: ENSP00000402420.1:p.Ala122Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.365C>T
  hgvsp: ENSP00000331516.2:p.Ala122Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.440C>T
  hgvsp: ENSP00000387233.1:p.Ala147Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.416C>T
  hgvsp: ENSP00000282272.8:p.Ala139Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.440C>T
  hgvsp: ENSP00000387141.1:p.Ala147Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.224C>T
  hgvsp: ENSP00000437825.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10746
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala147Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-197990585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990585
    reference: chr 2
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*236T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.363T>C
  hgvsp: ENST00000328737.2:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.222T>C
  hgvsp: ENST00000539527.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.363T>C
  hgvsp: ENST00000337207.5:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.414T>C
  hgvsp: ENST00000282272.8:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.438T>C
  hgvsp: ENST00000409919.1:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.363T>C
  hgvsp: ENST00000450567.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.438T>C
  hgvsp: ENST00000409153.1:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His146His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-197990585-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990585
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.363T>A
  hgvsp: ENSP00000331516.2:p.His121Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.438T>A
  hgvsp: ENSP00000387141.1:p.His146Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.438T>A
  hgvsp: ENSP00000387233.1:p.His146Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.414T>A
  hgvsp: ENSP00000282272.8:p.His138Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.222T>A
  hgvsp: ENSP00000437825.1:p.His74Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.363T>A
  hgvsp: ENSP00000338794.5:p.His121Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*236T>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.363T>A
  hgvsp: ENSP00000402420.1:p.His121Gln
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His146Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-197990598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990598
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990598
    reference: chr 2
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.425C>T
  hgvsp: ENSP00000387141.1:p.Thr142Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.350C>T
  hgvsp: ENSP00000402420.1:p.Thr117Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.350C>T
  hgvsp: ENSP00000331516.2:p.Thr117Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.425C>T
  hgvsp: ENSP00000387233.1:p.Thr142Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.350C>T
  hgvsp: ENSP00000338794.5:p.Thr117Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*223C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.401C>T
  hgvsp: ENSP00000282272.8:p.Thr134Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.209C>T
  hgvsp: ENSP00000437825.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr142Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-197990599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990599
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.349A>G
  hgvsp: ENSP00000402420.1:p.Thr117Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*222A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.400A>G
  hgvsp: ENSP00000282272.8:p.Thr134Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.424A>G
  hgvsp: ENSP00000387141.1:p.Thr142Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.349A>G
  hgvsp: ENSP00000331516.2:p.Thr117Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.208A>G
  hgvsp: ENSP00000437825.1:p.Thr70Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.349A>G
  hgvsp: ENSP00000338794.5:p.Thr117Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.424A>G
  hgvsp: ENSP00000387233.1:p.Thr142Ala
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr142Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

2-197990601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990601
    reference: chr 2
allele count: 38
allele frequency: 3.130148270181219e-4
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.347G>A
  hgvsp: ENSP00000331516.2:p.Arg116His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.398G>A
  hgvsp: ENSP00000282272.8:p.Arg133His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.347G>A
  hgvsp: ENSP00000402420.1:p.Arg116His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.422G>A
  hgvsp: ENSP00000387141.1:p.Arg141His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.206G>A
  hgvsp: ENSP00000437825.1:p.Arg69His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.347G>A
  hgvsp: ENSP00000338794.5:p.Arg116His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*220G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.422G>A
  hgvsp: ENSP00000387233.1:p.Arg141His
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26990
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg141His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-197990602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990602
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.421C>T
  hgvsp: ENSP00000387233.1:p.Arg141Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.421C>T
  hgvsp: ENSP00000387141.1:p.Arg141Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.346C>T
  hgvsp: ENSP00000402420.1:p.Arg116Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*219C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.346C>T
  hgvsp: ENSP00000338794.5:p.Arg116Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.397C>T
  hgvsp: ENSP00000282272.8:p.Arg133Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.205C>T
  hgvsp: ENSP00000437825.1:p.Arg69Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.346C>T
  hgvsp: ENSP00000331516.2:p.Arg116Cys
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg141Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-197990603-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990603
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.420G>T
  hgvsp: ENST00000409153.1:c.420G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.420G>T
  hgvsp: ENST00000409919.1:c.420G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*218G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.396G>T
  hgvsp: ENST00000282272.8:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.204G>T
  hgvsp: ENST00000539527.1:c.204G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.345G>T
  hgvsp: ENST00000337207.5:c.345G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.345G>T
  hgvsp: ENST00000450567.1:c.345G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.345G>T
  hgvsp: ENST00000328737.2:c.345G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly140Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

2-197990606-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990606
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.417G>A
  hgvsp: ENST00000409153.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.393G>A
  hgvsp: ENST00000282272.8:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.342G>A
  hgvsp: ENST00000328737.2:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.342G>A
  hgvsp: ENST00000450567.1:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.342G>A
  hgvsp: ENST00000337207.5:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.201G>A
  hgvsp: ENST00000539527.1:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.417G>A
  hgvsp: ENST00000409919.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly139Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-197990607-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990607
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990607
    reference: chr 2
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.341G>C
  hgvsp: ENSP00000331516.2:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.341G>C
  hgvsp: ENSP00000402420.1:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.416G>C
  hgvsp: ENSP00000387233.1:p.Gly139Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.416G>C
  hgvsp: ENSP00000387141.1:p.Gly139Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.200G>C
  hgvsp: ENSP00000437825.1:p.Gly67Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.392G>C
  hgvsp: ENSP00000282272.8:p.Gly131Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.341G>C
  hgvsp: ENSP00000338794.5:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*214G>C
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly139Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-197990608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990608
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.415G>A
  hgvsp: ENSP00000387141.1:p.Gly139Arg
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.340G>A
  hgvsp: ENSP00000402420.1:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*213G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.340G>A
  hgvsp: ENSP00000338794.5:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.415G>A
  hgvsp: ENSP00000387233.1:p.Gly139Arg
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.340G>A
  hgvsp: ENSP00000331516.2:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.391G>A
  hgvsp: ENSP00000282272.8:p.Gly131Arg
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.199G>A
  hgvsp: ENSP00000437825.1:p.Gly67Arg
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly139Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

2-197990614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990614
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990614
    reference: chr 2
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.409G>A
  hgvsp: ENSP00000387141.1:p.Asp137Asn
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.193G>A
  hgvsp: ENSP00000437825.1:p.Asp65Asn
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.334G>A
  hgvsp: ENSP00000402420.1:p.Asp112Asn
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.385G>A
  hgvsp: ENSP00000282272.8:p.Asp129Asn
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.334G>A
  hgvsp: ENSP00000338794.5:p.Asp112Asn
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.409G>A
  hgvsp: ENSP00000387233.1:p.Asp137Asn
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.334G>A
  hgvsp: ENSP00000331516.2:p.Asp112Asn
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp137Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

2-197990615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990615
    reference: chr 2
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.333C>T
  hgvsp: ENST00000337207.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.333C>T
  hgvsp: ENST00000328737.2:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.408C>T
  hgvsp: ENST00000409153.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.192C>T
  hgvsp: ENST00000539527.1:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.408C>T
  hgvsp: ENST00000409919.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.384C>T
  hgvsp: ENST00000282272.8:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.333C>T
  hgvsp: ENST00000450567.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser136Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-197990618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990618
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.330C>T
  hgvsp: ENST00000337207.5:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.189C>T
  hgvsp: ENST00000539527.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.330C>T
  hgvsp: ENST00000450567.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.330C>T
  hgvsp: ENST00000328737.2:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.381C>T
  hgvsp: ENST00000282272.8:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.405C>T
  hgvsp: ENST00000409919.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.405C>T
  hgvsp: ENST00000409153.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*203C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val135Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-197990628-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990628
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990628
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.179G>C
  hgvsp: ENSP00000437825.1:p.Ser60Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.320G>C
  hgvsp: ENSP00000402420.1:p.Ser107Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.371G>C
  hgvsp: ENSP00000282272.8:p.Ser124Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.320G>C
  hgvsp: ENSP00000338794.5:p.Ser107Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.395G>C
  hgvsp: ENSP00000387141.1:p.Ser132Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.320G>C
  hgvsp: ENSP00000331516.2:p.Ser107Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.395G>C
  hgvsp: ENSP00000387233.1:p.Ser132Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*193G>C
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser132Thr
num of homozygotes: 0
population: East Asian
population: Latino
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: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

2-197990650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990650
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*171G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.298G>A
  hgvsp: ENSP00000331516.2:p.Val100Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.349G>A
  hgvsp: ENSP00000282272.8:p.Val117Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.298G>A
  hgvsp: ENSP00000402420.1:p.Val100Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.298G>A
  hgvsp: ENSP00000338794.5:p.Val100Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.157G>A
  hgvsp: ENSP00000437825.1:p.Val53Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.373G>A
  hgvsp: ENSP00000387141.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.373G>A
  hgvsp: ENSP00000387233.1:p.Val125Met
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8504
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val125Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-197990658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990658
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.365G>A
  hgvsp: ENSP00000387141.1:p.Cys122Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.290G>A
  hgvsp: ENSP00000338794.5:p.Cys97Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.149G>A
  hgvsp: ENSP00000437825.1:p.Cys50Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*163G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.341G>A
  hgvsp: ENSP00000282272.8:p.Cys114Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.290G>A
  hgvsp: ENSP00000331516.2:p.Cys97Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.290G>A
  hgvsp: ENSP00000402420.1:p.Cys97Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.365G>A
  hgvsp: ENSP00000387233.1:p.Cys122Tyr
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys122Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-197990677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990677
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.322G>A
  hgvsp: ENSP00000282272.8:p.Ala108Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.271G>A
  hgvsp: ENSP00000338794.5:p.Ala91Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.130G>A
  hgvsp: ENSP00000437825.1:p.Ala44Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*144G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.271G>A
  hgvsp: ENSP00000331516.2:p.Ala91Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.271G>A
  hgvsp: ENSP00000402420.1:p.Ala91Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.346G>A
  hgvsp: ENSP00000387233.1:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.346G>A
  hgvsp: ENSP00000387141.1:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala116Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-197990679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990679
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.344C>T
  hgvsp: ENSP00000387233.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.344C>T
  hgvsp: ENSP00000387141.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.269C>T
  hgvsp: ENSP00000338794.5:p.Ala90Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.320C>T
  hgvsp: ENSP00000282272.8:p.Ala107Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.269C>T
  hgvsp: ENSP00000331516.2:p.Ala90Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.269C>T
  hgvsp: ENSP00000402420.1:p.Ala90Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.128C>T
  hgvsp: ENSP00000437825.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala115Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-197990683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990683
    reference: chr 2
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.316G>A
  hgvsp: ENSP00000282272.8:p.Ala106Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.265G>A
  hgvsp: ENSP00000331516.2:p.Ala89Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.124G>A
  hgvsp: ENSP00000437825.1:p.Ala42Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*138G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.265G>A
  hgvsp: ENSP00000402420.1:p.Ala89Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.340G>A
  hgvsp: ENSP00000387141.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.340G>A
  hgvsp: ENSP00000387233.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.265G>A
  hgvsp: ENSP00000338794.5:p.Ala89Thr
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10710
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala114Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-197990687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990687
    reference: chr 2
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.312T>C
  hgvsp: ENST00000282272.8:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.261T>C
  hgvsp: ENST00000337207.5:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*134T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.261T>C
  hgvsp: ENST00000328737.2:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.336T>C
  hgvsp: ENST00000409919.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.336T>C
  hgvsp: ENST00000409153.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.261T>C
  hgvsp: ENST00000450567.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.120T>C
  hgvsp: ENST00000539527.1:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His112His
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-197990702-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990702
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990702
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.321G>T
  hgvsp: ENSP00000387141.1:p.Trp107Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.297G>T
  hgvsp: ENSP00000282272.8:p.Trp99Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.246G>T
  hgvsp: ENSP00000402420.1:p.Trp82Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.105G>T
  hgvsp: ENSP00000437825.1:p.Trp35Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.246G>T
  hgvsp: ENSP00000331516.2:p.Trp82Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.321G>T
  hgvsp: ENSP00000387233.1:p.Trp107Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.246G>T
  hgvsp: ENSP00000338794.5:p.Trp82Cys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*119G>T
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10707
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp107Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-197990705-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990705
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.294C>G
  hgvsp: ENSP00000282272.8:p.Asn98Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.243C>G
  hgvsp: ENSP00000338794.5:p.Asn81Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.243C>G
  hgvsp: ENSP00000331516.2:p.Asn81Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.102C>G
  hgvsp: ENSP00000437825.1:p.Asn34Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.318C>G
  hgvsp: ENSP00000387233.1:p.Asn106Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.318C>G
  hgvsp: ENSP00000387141.1:p.Asn106Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.243C>G
  hgvsp: ENSP00000402420.1:p.Asn81Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*116C>G
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27080
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn106Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-197990735-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990735
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990735
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.264C>A
  hgvsp: ENSP00000282272.8:p.His88Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.213C>A
  hgvsp: ENSP00000338794.5:p.His71Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.72C>A
  hgvsp: ENSP00000437825.1:p.His24Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.213C>A
  hgvsp: ENSP00000399895.1:p.His71Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.213C>A
  hgvsp: ENSP00000402420.1:p.His71Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.288C>A
  hgvsp: ENSP00000387141.1:p.His96Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.213C>A
  hgvsp: ENSP00000331516.2:p.His71Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.288C>A
  hgvsp: ENSP00000387233.1:p.His96Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*86C>A
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His96Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-197990741-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990741
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990741
    reference: chr 2
allele count: 5295
allele frequency: 4.36218941540895e-2
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.207T>G
  hgvsp: ENSP00000338794.5:p.Ile69Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.207T>G
  hgvsp: ENSP00000331516.2:p.Ile69Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*80T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.207T>G
  hgvsp: ENSP00000399895.1:p.Ile69Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.282T>G
  hgvsp: ENSP00000387141.1:p.Ile94Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.282T>G
  hgvsp: ENSP00000387233.1:p.Ile94Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.66T>G
  hgvsp: ENSP00000437825.1:p.Ile22Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.258T>G
  hgvsp: ENSP00000282272.8:p.Ile86Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.207T>G
  hgvsp: ENSP00000402420.1:p.Ile69Met
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20368
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 9.75e1
  variant carriers: 3054
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 4.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.75e1
  variant carriers: 263
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12247
  bin: 9.75e1
  variant carriers: 5138
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile94Met
num of homozygotes: 155
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-197990749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990749
    reference: chr 2
allele count: 9
allele frequency: 7.415097137772504e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.250G>A
  hgvsp: ENSP00000282272.8:p.Val84Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.274G>A
  hgvsp: ENSP00000387233.1:p.Val92Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.199G>A
  hgvsp: ENSP00000331516.2:p.Val67Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.199G>A
  hgvsp: ENSP00000399895.1:p.Val67Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.274G>A
  hgvsp: ENSP00000387141.1:p.Val92Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.199G>A
  hgvsp: ENSP00000338794.5:p.Val67Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.58G>A
  hgvsp: ENSP00000437825.1:p.Val20Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.199G>A
  hgvsp: ENSP00000402420.1:p.Val67Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val92Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-197990755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990755
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990755
    reference: chr 2
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.193G>A
  hgvsp: ENSP00000399895.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.193G>A
  hgvsp: ENSP00000402420.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.193G>A
  hgvsp: ENSP00000331516.2:p.Val65Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.193G>A
  hgvsp: ENSP00000338794.5:p.Val65Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.268G>A
  hgvsp: ENSP00000387233.1:p.Val90Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.268G>A
  hgvsp: ENSP00000387141.1:p.Val90Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.244G>A
  hgvsp: ENSP00000282272.8:p.Val82Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.52G>A
  hgvsp: ENSP00000437825.1:p.Val18Ile
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val90Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/2-197990771-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990771
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-10T>G
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-197990778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990778
    reference: chr 2
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-17C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-17C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-17C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-17C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-17C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-17C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-17C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-17C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-17C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

2-197990778-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990778
    reference: chr 2
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-17C>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-17C>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-17C>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-17C>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-17C>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-17C>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-17C>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-17C>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-17C>G
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-197990780-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990780
    reference: chr 2
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-19A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-19A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-19A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-19A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-19A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-19A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-19A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-19A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-19A>G
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-197990790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990790
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990790
    reference: chr 2
allele count: 2
allele frequency: 1.657440249279014e-5
allele num: 120668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-29G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-29G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-29G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-29G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-29G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-29G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-29G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-29G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-29G>A
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-197990800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990800
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990800
    reference: chr 2
allele count: 20
allele frequency: 1.662593313049695e-4
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-39G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-39G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-39G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-39G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-39G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-39G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-39G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-39G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-39G>A
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

2-197990801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990801
    reference: chr 2
allele count: 2
allele frequency: 1.663118680149015e-5
allele num: 120256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-40C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-40C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-40C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-40C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-40C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-40C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-40C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-40C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-40C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-197990806-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990806
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990806
    reference: chr 2
allele count: 26
allele frequency: 2.16652223185121e-4
allele num: 120008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-45T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-45T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-45T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-45T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-45T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-45T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-45T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-45T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-45T>C
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14175
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10358
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-197990811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990811
    reference: chr 2
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-50A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-50A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-50A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-50A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-50A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-50A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-50A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-50A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-50A>G
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-197990811-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197990811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197990811
    reference: chr 2
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.238-50A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*60-50A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.187-50A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.262-50A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.187-50A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.262-50A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.187-50A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.46-50A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.187-50A>C
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-198001252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001252
    reference: chr 2
allele count: 8
allele frequency: 6.915270646404924e-5
allele num: 115686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+64C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+64C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+64C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+64C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+64C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+64C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.501C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+64C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+64C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+64C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-198001252-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001252
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001252
    reference: chr 2
allele count: 2
allele frequency: 1.728817661601231e-5
allele num: 115686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+64C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+64C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+64C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+64C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.501C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+64C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+64C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+64C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+64C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+64C>A
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-198001261-ACTTTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001255
    reference: chr 2
allele count: 6
allele frequency: 5.125051250512505e-5
allele num: 117072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+49_186+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+49_186+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.486_491delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+49_261+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+49_186+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+49_237+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+49_*59+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+49_186+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+49_45+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+49_261+54delAAAAAG
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28300
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: ACTTTTT
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-198001268-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001268
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001268
    reference: chr 2
allele count: 127
allele frequency: 1.076417141307296e-3
allele num: 117984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+48G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+48G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+48G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+48G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+48G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+48G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.485G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+48G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+48G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+48G>T
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 30409
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

2-198001269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001269
    reference: chr 2
allele count: 460
allele frequency: 3.891050583657588e-3
allele num: 118220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+47A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+47A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+47A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.484A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+47A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+47A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+47A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+47A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+47A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+47A>G
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 3.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30606
  bin: 2.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 3.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

2-198001271-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001271
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001271
    reference: chr 2
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.482A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+45A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+45A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+45A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+45A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+45A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+45A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+45A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+45A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+45A>G
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31261
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

2-198001286-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001286
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001286
    reference: chr 2
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+30C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+30C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+30C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+30C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+30C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+30C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+30C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.467C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+30C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+30C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-198001287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001287
    reference: chr 2
allele count: 9
allele frequency: 7.449221142544985e-5
allele num: 120818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+29C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.466C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+29C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+29C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+29C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+29C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+29C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+29C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+29C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+29C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-198001293-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001293
    reference: chr 2
allele count: 92
allele frequency: 7.602049248058172e-4
allele num: 121020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.460C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+23C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+23C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+23C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+23C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+23C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+23C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+23C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+23C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+23C>A
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32754
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-198001304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001304
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001304
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+12C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.449C>T
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-198001309-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001309
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001309
    reference: chr 2
allele count: 3
allele frequency: 2.473981956424931e-5
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+7G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+7G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.444G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+7G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+7G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+7G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+7G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+7G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+7G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+7G>C
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
hgvs: c.261+7G>C
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-198001315-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001315
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001315
    reference: chr 2
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.186+1G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.237+1G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.261+1G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.45+1G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.186+1G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*59+1G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.261+1G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.186+1G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.438G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.186+1G>C
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: c.261+1G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

2-198001319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001319
    reference: chr 2
allele count: 30461
allele frequency: 2.51121187139324e-1
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.183T>C
  hgvsp: ENST00000337207.5:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.183T>C
  hgvsp: ENST00000450567.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.234T>C
  hgvsp: ENST00000282272.8:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.183T>C
  hgvsp: ENST00000328737.2:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.434T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.42T>C
  hgvsp: ENST00000539527.1:c.42T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*56T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.258T>C
  hgvsp: ENST00000409919.1:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.258T>C
  hgvsp: ENST00000409153.1:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.183T>C
  hgvsp: ENST00000443014.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 2.75e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.25e1
  variant carriers: 1576
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 5.75e1
  variant carriers: 2541
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 9.25e1
  variant carriers: 857
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 599
genotype depth: GenotypeDepth
  all individuals: 18489
  bin: 2.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 3.75e1
  variant carriers: 1009
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.75e1
  variant carriers: 1640
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.25e1
  variant carriers: 2381
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 4.75e1
  variant carriers: 1981
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 8.25e1
  variant carriers: 1341
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 6.75e1
  variant carriers: 2285
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.25e1
  variant carriers: 1940
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 6.25e1
  variant carriers: 2466
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 9.75e1
  variant carriers: 4054
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 1074
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 5
hgvs: p.Ser86Ser
num of homozygotes: 4340
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-198001326-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001326
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.251C>A
  hgvsp: ENSP00000387141.1:p.Ser84Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.227C>A
  hgvsp: ENSP00000282272.8:p.Ser76Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.176C>A
  hgvsp: ENSP00000338794.5:p.Ser59Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.35C>A
  hgvsp: ENSP00000437825.1:p.Ser12Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.251C>A
  hgvsp: ENSP00000387233.1:p.Ser84Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.176C>A
  hgvsp: ENSP00000399895.1:p.Ser59Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*49C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.176C>A
  hgvsp: ENSP00000331516.2:p.Ser59Tyr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.427C>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.176C>A
  hgvsp: ENSP00000402420.1:p.Ser59Tyr
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser84Tyr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-198001333-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001333
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001333
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.169G>T
  hgvsp: ENSP00000399895.1:p.Val57Phe
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.244G>T
  hgvsp: ENSP00000387233.1:p.Val82Phe
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.220G>T
  hgvsp: ENSP00000282272.8:p.Val74Phe
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*42G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.28G>T
  hgvsp: ENSP00000437825.1:p.Val10Phe
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.244G>T
  hgvsp: ENSP00000387141.1:p.Val82Phe
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.169G>T
  hgvsp: ENSP00000338794.5:p.Val57Phe
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.420G>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.169G>T
  hgvsp: ENSP00000331516.2:p.Val57Phe
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.169G>T
  hgvsp: ENSP00000402420.1:p.Val57Phe
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val82Phe
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

2-198001333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001333
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001333
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.169G>A
  hgvsp: ENSP00000338794.5:p.Val57Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.169G>A
  hgvsp: ENSP00000331516.2:p.Val57Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.220G>A
  hgvsp: ENSP00000282272.8:p.Val74Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.169G>A
  hgvsp: ENSP00000399895.1:p.Val57Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.244G>A
  hgvsp: ENSP00000387141.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.244G>A
  hgvsp: ENSP00000387233.1:p.Val82Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.420G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.28G>A
  hgvsp: ENSP00000437825.1:p.Val10Ile
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.169G>A
  hgvsp: ENSP00000402420.1:p.Val57Ile
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val82Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

2-198001338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001338
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001338
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.215G>A
  hgvsp: ENSP00000282272.8:p.Arg72Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.239G>A
  hgvsp: ENSP00000387141.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.164G>A
  hgvsp: ENSP00000338794.5:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.164G>A
  hgvsp: ENSP00000399895.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.23G>A
  hgvsp: ENSP00000437825.1:p.Arg8Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.164G>A
  hgvsp: ENSP00000402420.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.415G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.164G>A
  hgvsp: ENSP00000331516.2:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.239G>A
  hgvsp: ENSP00000387233.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg80Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-198001339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001339
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001339
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.238C>T
  hgvsp: ENSP00000387233.1:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.163C>T
  hgvsp: ENSP00000399895.1:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.214C>T
  hgvsp: ENSP00000282272.8:p.Arg72Trp
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.414C>T
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.163C>T
  hgvsp: ENSP00000331516.2:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.163C>T
  hgvsp: ENSP00000338794.5:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.163C>T
  hgvsp: ENSP00000402420.1:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.22C>T
  hgvsp: ENSP00000437825.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.238C>T
  hgvsp: ENSP00000387141.1:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg80Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-198001359-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001359
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.143T>C
  hgvsp: ENSP00000338794.5:p.Met48Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.143T>C
  hgvsp: ENSP00000331516.2:p.Met48Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.2T>C
  hgvsp: ENSP00000437825.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.194T>C
  hgvsp: ENSP00000282272.8:p.Met65Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.143T>C
  hgvsp: ENSP00000402420.1:p.Met48Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.218T>C
  hgvsp: ENSP00000387233.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.218T>C
  hgvsp: ENSP00000387141.1:p.Met73Thr
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.394T>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.143T>C
  hgvsp: ENSP00000399895.1:p.Met48Thr
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met1?
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: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

2-198001359-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001359
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.143T>A
  hgvsp: ENSP00000331516.2:p.Met48Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.194T>A
  hgvsp: ENSP00000282272.8:p.Met65Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.143T>A
  hgvsp: ENSP00000338794.5:p.Met48Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.218T>A
  hgvsp: ENSP00000387141.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.218T>A
  hgvsp: ENSP00000387233.1:p.Met73Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.2T>A
  hgvsp: ENSP00000437825.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*16T>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.143T>A
  hgvsp: ENSP00000399895.1:p.Met48Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.143T>A
  hgvsp: ENSP00000402420.1:p.Met48Lys
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.394T>A
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-198001360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001360
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001360
    reference: chr 2
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.142A>G
  hgvsp: ENSP00000331516.2:p.Met48Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.1A>G
  hgvsp: ENSP00000437825.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.393A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.193A>G
  hgvsp: ENSP00000282272.8:p.Met65Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.142A>G
  hgvsp: ENSP00000402420.1:p.Met48Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.142A>G
  hgvsp: ENSP00000338794.5:p.Met48Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.142A>G
  hgvsp: ENSP00000399895.1:p.Met48Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.217A>G
  hgvsp: ENSP00000387233.1:p.Met73Val
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.217A>G
  hgvsp: ENSP00000387141.1:p.Met73Val
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-198001360-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001360
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001360
    reference: chr 2
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.217A>C
  hgvsp: ENSP00000387233.1:p.Met73Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.217A>C
  hgvsp: ENSP00000387141.1:p.Met73Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.142A>C
  hgvsp: ENSP00000331516.2:p.Met48Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.193A>C
  hgvsp: ENSP00000282272.8:p.Met65Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.142A>C
  hgvsp: ENSP00000399895.1:p.Met48Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.142A>C
  hgvsp: ENSP00000338794.5:p.Met48Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.393A>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.142A>C
  hgvsp: ENSP00000402420.1:p.Met48Leu
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.1A>C
  hgvsp: ENSP00000437825.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/25259
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8232
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-198001380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001380
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001380
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.122G>A
  hgvsp: ENSP00000338794.5:p.Arg41His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.122G>A
  hgvsp: ENSP00000399895.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.122G>A
  hgvsp: ENSP00000331516.2:p.Arg41His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.122G>A
  hgvsp: ENSP00000402420.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.197G>A
  hgvsp: ENSP00000387141.1:p.Arg66His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.197G>A
  hgvsp: ENSP00000387233.1:p.Arg66His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.118G>A
  hgvsp: ENSP00000405983.1:p.Val40Met
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.173G>A
  hgvsp: ENSP00000282272.8:p.Arg58His
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.373G>A
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg66His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-198001396-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001396
    reference: chr 2
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.-26-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.191-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.116-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.116-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.191-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.112-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.167-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.116-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.367-10T>G
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.116-10T>G
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

2-198001398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001398
    reference: chr 2
allele count: 3
allele frequency: 2.476882430647292e-5
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.191-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.116-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.112-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.167-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.191-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.-26-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.116-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.367-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.116-12G>A
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.116-12G>A
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-198001414-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 198001414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 198001414
    reference: chr 2
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000402420
  ensembl transcript: ENST00000450567
  gene symbol: ANKRD44
  hgvsc: ENST00000450567.1:c.116-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000399895
  ensembl transcript: ENST00000443014
  gene symbol: ANKRD44
  hgvsc: ENST00000443014.1:c.116-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl transcript: ENST00000463879
  gene symbol: ANKRD44
  hgvsc: ENST00000463879.1:n.367-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387141
  ensembl transcript: ENST00000409153
  gene symbol: ANKRD44
  hgvsc: ENST00000409153.1:c.191-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000437825
  ensembl transcript: ENST00000539527
  gene symbol: ANKRD44
  hgvsc: ENST00000539527.1:c.-26-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000331516
  ensembl transcript: ENST00000328737
  gene symbol: ANKRD44
  hgvsc: ENST00000328737.2:c.116-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000387233
  ensembl transcript: ENST00000409919
  gene symbol: ANKRD44
  hgvsc: ENST00000409919.1:c.191-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000338794
  ensembl transcript: ENST00000337207
  gene symbol: ANKRD44
  hgvsc: ENST00000337207.5:c.116-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000405983
  ensembl transcript: ENST00000447713
  gene symbol: ANKRD44
  hgvsc: ENST00000447713.1:c.112-28G>C
  variant of: http://identifiers.org/hgnc/25259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065413
  ensembl protein: ENSP00000282272
  ensembl transcript: ENST00000282272
  gene symbol: ANKRD44
  hgvsc: ENST00000282272.8:c.167-28G>C
  variant of: http://identifiers.org/hgnc/25259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18450
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 26777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10755
bin: 9.75e1
variant carriers: 6

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.509762691498949e-5
allele num: 66580
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

QD
type: SiteQuality
SIO_000300: 1.384e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 2.015036e6

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

GenotypeQuality
all individuals: 1527
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10750
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2091
bin: 9.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 2.016864e6

FS
type: SiteQuality
SIO_000300: 6.084e0

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

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8470
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3206
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3151
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 6.084e0

DP
type: SiteQuality
SIO_000300: 2.016864e6

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 1528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26941
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4407
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.017349e6

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

FS
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e0

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2089
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.017738e6

FS
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
all individuals: 4410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26966
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1526
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

DP
type: SiteQuality
SIO_000300: 2.018293e6

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8488
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 5
allele frequency: 7.493780162465154e-5
allele num: 66722
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.379e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 1.998e0

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

DP
type: SiteQuality
SIO_000300: 2.019215e6

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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: 11
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

QD
type: SiteQuality
SIO_000300: 1.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

DP
type: SiteQuality
SIO_000300: 2.019203e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.188e0

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

GenotypeQuality
all individuals: 2086
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8488
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.336e0

QD
type: SiteQuality
SIO_000300: 1.075e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.019259e6

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
all individuals: 27009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.019259e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.336e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.125e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.075e1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 26998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4417
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

DP
type: SiteQuality
SIO_000300: 2.019501e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.547e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 2.28e0

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.019246e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

FS
type: SiteQuality
SIO_000300: 2.009e0

QD
type: SiteQuality
SIO_000300: 1.075e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 38

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.39471318108254e-4
allele num: 66732
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.022614e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.101e0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2083
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GenotypeQuality
all individuals: 26998
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

QD
type: SiteQuality
SIO_000300: 1.403e1

FS
type: SiteQuality
SIO_000300: 8.301e0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
SIO_000300: 2.019362e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

GenotypeQuality
all individuals: 1530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

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

GenotypeQuality
all individuals: 10717
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4419
bin: 7.75e1
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GenotypeQuality
all individuals: 5
bin: 5.75e1
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GenotypeQuality
all individuals: 8497
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 9.25e1
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GenotypeQuality
all individuals: 27011
bin: 6.25e1
variant carriers: 0

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

South Asian
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Latino
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East Asian
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African
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European (Non-Finnish)
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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VQSLOD
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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South Asian
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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Other
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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African
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East Asian
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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QD
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FS
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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Latino
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African
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South Asian
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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MQ
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VQSLOD
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East Asian
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African
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MQ
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FS
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QD
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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African
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Other
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European (Finnish)
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East Asian
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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Other
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African
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DP
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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ClippingRankSum
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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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East Asian
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Latino
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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MQRankSum
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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QD
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Other
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East Asian
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Latino
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European (Non-Finnish)
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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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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European (Finnish)
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Other
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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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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European (Non-Finnish)
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African
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European (Finnish)
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Other
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Latino
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East Asian
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South Asian
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FS
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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European (Finnish)
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African
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allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4088
allele frequency: 6.126547372838174e-2
allele num: 66726
num of homozygotes: 134

Other
type: Population
allele count: 42
allele frequency: 4.625550660792951e-2
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.561e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

DP
type: SiteQuality
SIO_000300: 2.342549e6

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

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

GenotypeQuality
all individuals: 9076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7812
bin: 9.75e1
variant carriers: 9

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

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

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

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

GenotypeQuality
all individuals: 1991
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3255
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 7.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494004796163069e-5
allele num: 66720
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 5.464e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.646e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.95569e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 3248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.953526e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.039e0

FS
type: SiteQuality
SIO_000300: 3.35e0

GenotypeQuality
all individuals: 1461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7791
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4535
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 9014
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variant carriers: 0

GenotypeQuality
all individuals: 28783
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variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.262e0

DP
type: SiteQuality
SIO_000300: 1.948072e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.302e0

QD
type: SiteQuality
SIO_000300: 1.479e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
all individuals: 3245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4474
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
all individuals: 7788
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.271e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 5.921e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.429e1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

DP
type: SiteQuality
SIO_000300: 1.93809e6

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 5.921e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.93809e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.271e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3231
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 28385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.937792e6

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

FS
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.163e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 3184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 305
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.501e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 8.738e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.888429e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 2950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3138
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741856819369448e-4
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.11595429538722e-4
allele num: 66164
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.222195062331948e-4
allele num: 16364
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.806669e6

QD
type: SiteQuality
SIO_000300: 1.571e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 23
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-5
allele num: 66140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

FS
type: SiteQuality
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QD
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SIO_000300: 1.262e1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

InbreedingCoeff
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SIO_000300: 2.7e-3

MQRankSum
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SIO_000300: 1.49e-1

DP
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SIO_000300: 1.79788e6

BaseQRankSum
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SIO_000300: -3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 3.027480204937121e-3
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66008
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
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SIO_000300: 2.8e-2

BaseQRankSum
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SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
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: 8556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.916699722332408e-5
allele num: 10084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65742
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.741e1

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.759e0

VQSLOD
type: SiteQuality
SIO_000300: -5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.916699722332408e-5
allele num: 10084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65742
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 8.759e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.741e1

DP
type: SiteQuality
SIO_000300: 1.739655e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63674
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 8
allele frequency: 5.01819094216535e-4
allele num: 15942
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

DP
type: SiteQuality
SIO_000300: 1.433153e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63674
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.154155986818015e-5
allele num: 10924
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.165e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

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

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

African
type: Population
allele count: 1
allele frequency: 1.009081735620585e-4
allele num: 9910
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.757229738115924e-5
allele num: 64456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.59e-1

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

African
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allele frequency: 3.006614552014432e-4
allele num: 9978
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 113
allele frequency: 1.738033714777901e-3
allele num: 65016
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.457917261055635e-4
allele num: 11216
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.534212948757288e-4
allele num: 6518
num of homozygotes: 0

South Asian
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allele frequency: 2.478007681823814e-4
allele num: 16142
num of homozygotes: 0

InbreedingCoeff
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 5062
bin: 9.75e1
variant carriers: 458

Latino
type: Population
allele count: 8
allele frequency: 7.11997152011392e-4
allele num: 11236
num of homozygotes: 0

East Asian
type: Population
allele count: 128
allele frequency: 1.55076326629513e-2
allele num: 8254
num of homozygotes: 0

South Asian
type: Population
allele count: 135
allele frequency: 8.348794063079777e-3
allele num: 16170
num of homozygotes: 2

Other
type: Population
allele count: 2
allele frequency: 2.247191011235955e-3
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.999200159968006e-4
allele num: 10002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 27
allele frequency: 4.133496631965708e-3
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 156
allele frequency: 2.394988946204864e-3
allele num: 65136
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

VQSLOD
type: SiteQuality
SIO_000300: 6.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

DP
type: SiteQuality
SIO_000300: 1.577955e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 7024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2343
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 33849
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.754e0

VQSLOD
type: SiteQuality
SIO_000300: -1.666e-1

DP
type: SiteQuality
SIO_000300: 1.587072e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 1.354e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

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
all individuals: 4889
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variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.746419839329375e-4
allele num: 11452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.558e0

DP
type: SiteQuality
SIO_000300: 1.634361e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

QD
type: SiteQuality
SIO_000300: 2.278e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.902e0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4906
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7437
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.8506629448709e-4
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 1.635478e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 4.669e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 7470
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GenotypeQuality
all individuals: 4992
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variant carriers: 92

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 2556
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GenotypeQuality
all individuals: 36339
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1102
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GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 1473
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 88
allele frequency: 8.500772797527048e-3
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.68e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.839e0

QD
type: SiteQuality
SIO_000300: 1.273e1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

FS
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.642009e6

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 23
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 19
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GenotypeQuality
all individuals: 7511
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.706e0

DP
type: SiteQuality
SIO_000300: 1.645651e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.742e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 5.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

GenotypeQuality
all individuals: 7513
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variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.886836027713626e-4
allele num: 10392
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.963e1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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variant carriers: 29

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 21
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1554
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 468
bin: 8.75e1
variant carriers: 37

GenotypeQuality
all individuals: 27772
bin: 9.75e1
variant carriers: 25818

GenotypeQuality
all individuals: 1077
bin: 8.25e1
variant carriers: 43

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 647
bin: 9.25e1
variant carriers: 71

East Asian
type: Population
allele count: 2033
allele frequency: 2.353009259259259e-1
allele num: 8640
num of homozygotes: 234

African
type: Population
allele count: 5447
allele frequency: 5.236492982118823e-1
allele num: 10402
num of homozygotes: 1429

European (Non-Finnish)
type: Population
allele count: 15487
allele frequency: 2.322585482903419e-1
allele num: 66680
num of homozygotes: 1815

Other
type: Population
allele count: 206
allele frequency: 2.273730684326711e-1
allele num: 906
num of homozygotes: 19

South Asian
type: Population
allele count: 3770
allele frequency: 2.284017932872895e-1
allele num: 16506
num of homozygotes: 478

Latino
type: Population
allele count: 2377
allele frequency: 2.057296174485027e-1
allele num: 11554
num of homozygotes: 268

European (Finnish)
type: Population
allele count: 1141
allele frequency: 1.725650332728373e-1
allele num: 6612
num of homozygotes: 97

BaseQRankSum
type: SiteQuality
SIO_000300: -1.199e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.15e-2

DP
type: SiteQuality
SIO_000300: 2.774413e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.535e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

GenotypeQuality
all individuals: 1159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4560
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3203
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 902
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variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 6.118e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 9.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 1.809213e6

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8262
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variant carriers: 0

GenotypeQuality
all individuals: 2064
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variant carriers: 0

GenotypeQuality
all individuals: 2650
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37770
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
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variant carriers: 1

GenotypeQuality
all individuals: 898
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1159
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.061e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.782e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 1.7054e1

DP
type: SiteQuality
SIO_000300: 1.808934e6

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 2064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37770
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3196
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

VQSLOD
type: SiteQuality
SIO_000300: -1.782e0

FS
type: SiteQuality
SIO_000300: 1.7054e1

DP
type: SiteQuality
SIO_000300: 1.808934e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2062
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37808
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variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8258
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.808846e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

FS
type: SiteQuality
SIO_000300: 2.471e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.327e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

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

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

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

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

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

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 8258
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2648
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GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

QD
type: SiteQuality
SIO_000300: 2.459e1

DP
type: SiteQuality
SIO_000300: 1.808587e6

FS
type: SiteQuality
SIO_000300: 8.548999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

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

GenotypeQuality
all individuals: 2053
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

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

GenotypeQuality
all individuals: 891
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GenotypeQuality
all individuals: 8235
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
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GenotypeQuality
all individuals: 2641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e0

VQSLOD
type: SiteQuality
SIO_000300: -2.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 1.806703e6

FS
type: SiteQuality
SIO_000300: 1.333e0

QD
type: SiteQuality
SIO_000300: 6.87e0

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

GenotypeQuality
all individuals: 2641
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 6.87e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 1.333e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.219e0

DP
type: SiteQuality
SIO_000300: 1.806703e6

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4511
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37822
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.806587e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37822
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4511
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.372e1

MQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.806587e6

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.25e1
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: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2025
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.407e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 4.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

DP
type: SiteQuality
SIO_000300: 1.802411e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 8030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.983e0

QD
type: SiteQuality
SIO_000300: 1.394e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 1.791327e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.456e-1

GenotypeQuality
all individuals: 686
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1992
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variant carriers: 0

GenotypeQuality
all individuals: 8003
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.821051353648173e-4
allele num: 16474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.364e0

DP
type: SiteQuality
SIO_000300: 1.78873e6

FS
type: SiteQuality
SIO_000300: 9.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.174e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1